Glossary for Arm symptoms

Medical terms related to Arm symptoms or mentioned in this section include:

• $18p minus syndrome$: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
• $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $22q11.2 deletion syndrome$: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• $2q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $3-methylglutaconic aciduria, type 1$: A recessively inherited metabolic disorder characterized by methylglutaconic acid in the urine.
• $3q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $46,XX chromosome 7 deletion p13$: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• $47,XXX syndrome$: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
• $49,XXXXX syndrome$: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
• $49,XXXXY syndrome$: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
• ADULT syndrome: A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities.
• AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
• ARTS syndrome: A rare lethal syndrome characterized by deafness, optic atrophy and ataxia.
• ATRUS syndrome: A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder.
• Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
• Abdominal Aneurysm: Dilatation of a section of the abdominal aorta, usually due to a weakness in the wall of the artery
• Abnormal number of nipples: More than or less than 2 the number of nipples on a persons body
• Absence of tibia with polydactyly: The congenital absence of the tibial bone which is the shin bone as well as the presence of extra fingers.
• Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
• Achard syndrome: An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints.
• Achondrogenesis: A type of dwarfism where the main limbs are short and the head and trunk are hydropic (contain an accumulation of clear fluid).
• Achondroplasia: A rare disease characterized by abnormal bone growth which results in short stature with short arms and legs, large head and characteristic facial features.
• Acidic dry cell batteries inhalation poisoning: Acidic dry cell batteries contain toxic chemicals which can cause symptoms if inhaled. The smoke emitted from burning batteries can also cause poisoning symptoms if sufficient quantities are inhaled. The type and severity of symptoms varies depending on the amount of chemical involved.
• Ackerman syndrome: An extremely rare condition characterized primarily by glaucoma, upper lip deformity and abnormal tooth roots.
• Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
• Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
• Acrocallosal Syndrome (Schinzel Type): A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities.
• Acrocapitofemoral dysplasia: A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips.
• Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
• Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
• Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Acrocyanosis: A condition where the body extremities sweat and turn blue and cold. Exposure to cold, emotional stress and smoking may trigger the condition. Also known as Raynaud's phenomenon or Raynaud's sign.
• Acrodermatitis, persistent: A rare chronic skin condition characterized by the eruption of pustules that usually occur on the ends of fingers
• Acrodysplasia scoliosis: A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies.
• Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
• Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
• Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
• Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
• Acrogeria (Gottron Type): An extremely rare, mild form of progeria.
• Acromegaloid changes, cutis verticis gyrata and corneal leukoma: A rare disorder characterized by acromegaly (enlarged extremeties) , furrowed skin on scalp and face and corneal leukomas.
• Acromegaloid facial appearance syndrome: A very rare genetic disorder characterized by thick lips and gums, thick upper eyelids, large hands and occasionally mental deficiency.
• Acromegaloid facies - hypertrichosis: A very rare genetic disorder characterized by thick lips and gums, thick upper eyelids, large hands and occasionally mental deficiency.
• Acromegaloid, Cutis Verticis Gyrata, Corneal Leukoma Syndrome: A rare condition characterized by the association of acromegaly, cutis verticis gyrate and corneal leukoma.
• Acromegaly: An abnormal enlargement of the limbs due to increased secretion of growth hormone after the cessation of puberty
• Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
• Acroosteolysis neurogenic: A very rare inherited condition characterized mainly by the loss of all sensations - the lose the ability to feel pain, temperature and touch. The loss of sensation generally starts at the toes and fingers and spreads up the limbs and the trunk may also be involved in some cases.
• Acroparesthesia syndrome: A condition involving episodes of paresthesia (tingling, numbness and stiffness) mainly in the lower arms and hands. It most often occurs in middle-aged women.
• Acropectoral syndrome: A rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall.
• Acropectorovertebral dysplasia: A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones.
• Acrorenal syndrome recessive: A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities.
• Acute intermittent porphyria: A rare inherited metabolic disorder caused by a disturbed porphyrin metabolism resulting in increased production of porphyrin or its precursors. Symptoms include abdominal pain, photosensitivity and neurological disturbances such as seizures, coma, hallucinations and respiratory paralysis.
• Acute rheumatic fever: Bacterial joint infection with risk of heart complications.
• Adams-Oliver Syndrome: A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe.
• Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
• Adducted thumbs - arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
• Adrenal gland symptoms: Symptoms affecting the adrenal glands
• Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
• Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
• Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
• Alcohol Withdrawal: Symptoms that occur when alcohol consumption is discontinued or reduced. Symptoms may vary depending on the level of dependence.
• Alexander Syndrome: Brain myelin disorder causing mental degeneration.
• Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
• Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
• Alpers Syndrome: A rare syndrome characterized by liver disease, seizures and progressive, episodic psychomotor retardation.
• Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
• Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
• Amlodipine - Teratogenic Agent: There is strong evidence to indicate that exposure to Amlodipine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Amphetamine - Teratogenic Agent: There is strong evidence to indicate that exposure to Amphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Amyloidosis AL: A disease involving the abnormal deposit of amyloid fibrils in virtually any part of the body - the heart, liver, kidney and peripheral and autonomic nerves are most commonly affected. The abnormal amyloid fibrils are produced abnormal plasma cells in the bone marrow. In some cases, the excess growth of abnormal plasma cells can result in a cancerous condition called myeloma resulting in bone pain and infections. A patient with myeloma may develop amyloidosis but it is rare for a patient with AL amyloidosis to go on to develop myeloma.
• Amyotrophic lateral sclerosis: A degenerative motor neuron disease marked by weakness and wasting of the muscles which starts at the hands and legs and spreads to the rest of the body. Death occurs in 2 to 5 years. Also called Lou Gehrig's disease or wasting palsy.
• Amyotrophic lateral sclerosis, familial type 1: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 1 is characterized by adult onset and relatively fast progression of symptoms. It usually occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 2: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 2 is characterized by childhood or adolescent onset of symptoms which progress very slowly over decades. It occurs in an autosomal recessive pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 3: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 3 is characterized late adulthood onset of symptoms which progress slowly over 5 years. It occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 4: A generally fatal progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 4 is characterized by the onset of symptoms before the age of 25 and slow progression over the next few decades. It occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 5: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adolescent onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal recessive pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 6: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 6 is characterized adult onset of symptoms with progression varying between 1 and 20 years. It occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 7: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 7 is characterized adult onset of symptoms with progression varying between less than 5 years to several decades. It occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, familial type 8: A generally fatal, inherited progressive disease where destruction of motor nerves in the spinal cord and brain stem cause progressive muscle weakness and wasting. Type 8 is characterized by adult onset and relatively slow progression of symptoms. It occurs in an autosomal dominant pattern of inheritance.
• Amyotrophic lateral sclerosis, type 6: An inherited disorder involving progressive degeneration of motor neurons which results in muscle weakness and wasting. Type 6 is caused by a defect on chromosome 16q12.
• Anaphylaxis: An immediate hypersensitivity reaction due to the exposure of a specific antigen to a sensitized individual
• Anaplastic large cell lymphoma: A rare type of cancer where a tumor develops in lymph tissue and usually consists of white blood cells and null cells. It is a form of non-Hodgkin's lymphoma. The tumors can develop in more than one lymph node and can also occur in the skin and various organs such as the liver, bones or lungs.
• Anaplastic small cell lymphoma: A rare type of cancer where a tumor develops in lymph tissue and consists mainly of small cells. It is a form of non-Hodgkin's lymphoma. The tumors can develop in more than one lymph node and can also occur in the skin and various organs such as the liver, bones or lungs.
• Anauxetic dysplasia: A rare disorder characterized by abnormal skeletal and spinal development.
• Angel shaped phalangoepiphyseal dysplasia: A rare genetic bone development disorder characterized mainly by an unusual angel-shaped ends of some bones (fingers and hips) which leads to early osteoarthritis.
• Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
• Angina: Angina is a particular type of pain related to heart conditions
• Ankylosis - facial anomalies - pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
• Anonychia - microcephaly: A very rare syndrome characterized by the absence of nails and a small head.
• Anonychia onychodystrophy brachydactyly type b: A rare, dominantly inherited disorder characterized abnormal or absent nails, permanently flexed fingers and a broad, finger-like thumb.
• Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly: A rare, dominantly inherited disorder characterized abnormal or absent nails, missing fingers, permanently flexed fingers and a broad, finger-like thumb.
• Anophthalmia - hand and foot defects - mental retardation: A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes.
• Anophthalmia - megalocornea - cardiopathy - skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
• Anophthalmia - short stature - obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
• Anophthalmos with limb anomalies: A rare disorder characterized by absent eyes
• Ansell-Bywaters-Elderking syndrome: A rare familial syndrome characterized mainly by mental retardation, rash, eye inflammation and joint disease.
• Anterior Interosseous Nerve Compression: Compression or entrapment of the radial nerve which is in the forearm. The problem can result from such things as bone tumors, trauma, lipomas or the repetition of certain arm motion. This nerve is involved in controlling various muscles in the hand and the wrist. The condition may be misdiagnosed as tennis elbow - the pain from tennis elbow is usually closer to the elbow than the pain in radial tunnel syndrome.
• Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
• Aphalangia - syndactyly - microcephaly: A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers.
• Aplasia cutis congenital - intestinal lymphangiectasia: A rare disorder characterized by a skin defect and dilated intestinal lymph vessels.
• Arachnodactyly: Hands and fingers, and feet and toes, are abnormally long and slender.
• Arachnoid Cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the cyst.
• Arm blueness: A blue discolouration of the arm
• Arm bruise: A haematoma that occurs on the arm.
• Arm burning sensation: A burning sensation located on the arm region
• Arm coldness: A cold sensation occurring on the arm
• Arm fracture: Fracture of bones in the arm.
• Arm injury: An injury to the arm
• Arm itch: A sensation that causes a desire to scratch the skin of the arm
• Arm lump: A palpable lesion located anatomically at or near the ankle joint
• Arm numbness: Loss of feeling or sensation
• Arm pain: Pain or discomfort of one or both arms
• Arm paralysis: A loss of the motor and or sensory function of the arm due to either a muscular or neural mechanism
• Arm paresthesia: Arm tingling, prickling, numbness or burning sensations
• Arm rash: An eruption on the skin of the arm.
• Arm spasm: A sudden involuntary contraction of a muscle or of muscles in the arm.
• Arm swelling: A swelling located on the arm
• Arm symptoms: Symptoms affecting the arm
• Arm tremor: The occurrence of a physical tremor located in the arm
• Arm weakness: Weakness of one or both arms
• Arterial occlusive disease, progressive - hypertension - heart defects - bone fragility - brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
• Arteriosclerosis Obliterans: Arteriosclerosis that results in the narrowing and gradual blockage of the artery. Arteriosclerosis involves the deposition of cholesterol plaques and other material on the inside of the artery walls. The symptoms will depend on the location of the arteries affected and how severe the blockage is.
• Arthritis-related enthesitis: Inflammation of the entheses due to arthritis. The enthuses is the site at which the tendon or ligament attaches to the bone.
• Arthrogryposis Distal: A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable.
• Arthrogryposis multiplex congenita - pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Arthrogryposis multiplex congenita, distal type 1: A form of arthrygryposis (congenital contractures) which tends to affect mainly the distal parts of limbs (hands and feet). The degree of limb involvement is variable.
• Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
• Arthrogryposis, distal, type 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
• Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies: A very rare syndrome characterized mainly by mental retardation, permanent flexion of fingers, low pituitary hormone level and facial anomalies.
• Asbestos conditions: Medical conditions caused be exposure to asbestos dust
• Asterixes: A flapping tremor that occurs at the wrist, hand or hip joints.
• Asterixis: The intermittent loss of sustained contraction of the arms against ones will.
• Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
• Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
• Autoimmune thyroid diseases: Autoimmune diseases of the thyroid gland.
• Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
• Axillary Swelling: Enlargement, swelling or lump in the axillary (armpit) region.
• Axillary mass: A mass located in the armpit
• Back tumour: The presence of tumour growth in the vertebra, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast.
• Bahemuka Brown syndrome: A very rare syndrome characterized by spastic paraplegia and skin pigmentation irregularities.
• Banki syndrome: A rare disorder characterized by abnormal curvature of fingers, thin middle sections of long bones, fusion of certain wrist bones (lunate and cuneiform bones) and other hand abnormalities.
• Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
• Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
• Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
• Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
• Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
• Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
• Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
• Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
• Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
• Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
• Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
• Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
• Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
• Barrett syndrome: A chronic peptic ulcer of the esophagus.
• Basilar artery migraine: Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered consciousness, syncope, and sometimes loss of consciousness.
• Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
• Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
• Benazepril - Teratogenic Agent: There is strong evidence to indicate that exposure to Benazepril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Beriberi: Disease due to vitamin B1 deficiency (thiamine)
• Berylliosis: Beryllium poisoning which causes granulomas and pulmonary fibrosis.
• Beveridge syndrome: A rare syndrome characterized by a large head, skeletal and visceral problems and patches of reduced skin pigmentation.
• Bhaskar-Jagannathan syndrome: A very rare syndrome characterized primarily by long, thin fingers, amino acids in the urine, cataracts (during infancy), incoordination and delayed development.
• Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.
• Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
• Black hairy tongue: The occurrence of a hairy tongue where the papillae are brown or black
• Blepharophimosis - ptosis - syndactyly - mental retardation: A rare genetic disorder characterized by eye anomalies, webbed fingers and mental retardation.
• Blepharophimosis ptosis esotropia syndactyly short: A rare disorder characterized by eye anomalies, webbed fingers and short stature.
• Blepharophimosis, ptosis, polythelia and brachydactyly: A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia).
• Blepharoptosis - cleft palate - ectrodactyly - dental anomalies: A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance.
• Blue hands: Blue appearance of the hands
• Blue nails: A condition which is characterized by the occurrence of nails that are blue in appearance
• Bonnier's syndrome: A range of symptoms caused by damage to Dieter's nucleus (the lateral nucleus of the vestibular nerve) or its connections.
• Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
• Botulism food poisoning: Extremely dangerous food poisoning requiring medical attention, but not always recognized because of its non-abdominal symptoms.
• Brachial Neuritis: Condition where there is a sudden onset of shoulder weakness and pain, thought to be due to a viral infection of the nerve roots in the cervical spine
• Brachial Plexus Injury: Damage to the nerves controlling the shoulder and arm (often from childbirth).
• Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
• Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
• Brachydactylous dwarfism, Mseleni type: A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. The condition can eventually lead to disability and hip and/or knee replacements in serious cases.
• Brachydactyly: Short fingers or toes relative to the other arm and legs.
• Brachydactyly - arterial hypertension: A rare syndrome characterized by the association of hypertension with short digits. Premature death (by the fifth decade) due to stroke occurs in untreated patients.
• Brachydactyly - dwarfism - mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
• Brachydactyly - elbow, wrist dysplasia: A very rare syndrome characterized by elbow and wrist abnormalities and short end bones of fingers.
• Brachydactyly - mesomelia - mental retardation - heart defects: A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs.
• Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.
• Brachydactyly - small stature - face anomalies: A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies.
• Brachydactyly type A3: A hand malformation characterized by a short middle bone of the fifth finger and this finger usually bends towards the fourth finger.
• Brachydactyly type C: A rare malformation characterized primarily by variable deformities involving the two sections closest to the hand of the second and third fingers.
• Brachydactyly, long thumb type: A rare digital anomaly characterized by short fingers and a long thumb.
• Brachydactyly, type B2: A rare dominantly inherited hand and foot malformation involving varying degrees of absence or underdevelopment of the ends of the fingers and toes as well as fusion of bones in the wrist and ankle.
• Brachymetapody, anodontia, hypotrichosis, albinoidism: A rare syndrome characterized by short foot bones, total absence of teeth, reduced amount of hair and lack of skin pigmentation.
• Brachytelephalangy, characteristic facies, Kallmann: A very rare syndrome characterized primarily by very short end bones of fingers and facial anomalies.
• Brain - bone - fat: A rare inherited disease characterized by bone cysts and progressive presenile dementia.
• Brain malformation - congenital heart disease - postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
• Brain symptoms: Symptoms affecting the brain
• Breast abscess: The presence of an abscess which has formed within the breast
• Breast cancer: A condition which is characterized by the presence of malignant tissue within breast tissue
• Brittle fingernails: A condition which is characterized by brittle fingernails
• Brittle nails: thinning of the nail plate
• Broken Collarbone: Fractured collarbone (clavicle)
• Broken elbow: Fracture at the elbow joint
• Broken finger: Fracture of a finger bone
• Broken hand: Fracture of one or more bones in the hand
• Broken shoulder blade: Fracture of the shoulder blade bone (scapula)
• Bronchiolitis Obliterans - Ammonia inhalation: A lung disease caused by inhalation of Ammonia. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Chlorine inhalation: A lung disease caused by inhalation of Chlorine. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Diacetyl inhalation: A lung disease caused by inhalation of Diacetyl. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Hydrogen bromide inhalation: A lung disease caused by inhalation of Hydrogen bromide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Hydrogen chloride inhalation: A lung disease caused by inhalation of Hydrogen chloride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Hydrogen fluoride inhalation: A lung disease caused by inhalation of Hydrogen fluoride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Hydrogen sulfide inhalation: A lung disease caused by inhalation of Hydrogen sulfide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Methyl isocyanate inhalation: A lung disease caused by inhalation of Methyl isocyanate. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Nitrogen Oxide inhalation: A lung disease caused by inhalation of Nitrogen oxides. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Ozone inhalation: A lung disease caused by inhalation of v. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Phosgene inhalation: A lung disease caused by inhalation of Nitrogen oxides. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Polyamide-amine dyes inhalation: A lung disease caused by inhalation of Polyamide-amine dyes. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Sulphur dioxide inhalation: A lung disease caused by inhalation of Sulphur dioxide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Bronchiolitis Obliterans - Thionyl chloride inhalation: A lung disease caused by inhalation of Thionyl chloride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
• Brown nails: The occurrence of brown nails
• Brown-Vialetto-Van Laere syndrome: A very rare progressive disorder characterized by nerve deafness and cranial (and sometimes spinal) nerve paralysis.
• Brugsch's syndrome: A rare syndrome characterized by small hands and feet as well as thickened skin on the hands, feet, scalp and face.
• Bruyn-Scheltens syndrome: A rare syndrome characterized by limb weakness and muscle wasting in the hands and feet.
• Bubonic plague: Severe flea-borne bacterial disease
• Buerger's disease: Buergers's disease is a recurring inflammation and thrombosis (clotting) of small and medium arteries and veins of the hands and feet
• Bulimia nervosa: Eating disorder with binging (overeating) and purging (vomiting).
• Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
• Buttiens-Fryns syndrome: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
• C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
• C1esterase deficiency: C1esterase deficiency is a condition characterized by swelling under the skin or mucosal tissue - the skin, respiratory tract or gastrointestinal tract may be affected. The condition may be inherited or acquired. Symptoms tend to develop over a few days and then abate after two to five days. Swelling attacks may occur fairly regularly e.g. weekly or sporadically e.g. once or twice a year.
• CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
• CFS subtype 1 (cognitive, musculoskeletal, sleep, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 1 tends to be more severe with the dominant symptoms being anxiety, depression and cognitive, musculoskeletal and sleeping problems.
• CFS subtype 2 ( musculoskeletal, pain, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 2 tends to be more severe with the dominant symptoms being anxiety, depression, pain and musculoskeletal problems.
• CFS subtype 3 (mild): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 3 tends to have milder symptoms than other subtypes.
• CFS subtype 4 (cognitive, musculoskeletal, sleep, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 4 tends to be dominated by cognitive symptoms.
• CFS subtype 5 (musculoskeletal, gastrointestinal): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 5 tends to be dominated by musculoskeletal and gastrointestinal symptoms.
• CFS subtype 6 (postexertional): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 6 tends to be dominated by excessive fatigue following exertion.
• CFS subtype 7 (pain, infectious, musculoskeletal, sleep, neurological, gastrointestinal, neurocognitive, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 7 tends to be more severe with the dominant symptoms being pain, infections, anxiety, depression and musculoskeletal, sleep, neurological, gastrointestinal and neurocognitive problems.
• Camera Costa Syndrome: Camera Costa syndrome refers to a reported case characterized by hand and finger malformations, hearing impairment and heart defect.
• Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
• Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
• Camptobrachydactyly: A rare hand and foot abnormality where the fingers and toes are unusually short and the first part of the fingers or toes are held in a fixed contracted position.
• Camptodactyly: A flexion deformity of the finger where the finger is bent and unable to straighten.
• Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
• Camptodactyly - taurinuria: A rare disorder characterized by high urinary levels of taurine as well as a hand malformation.
• Camptodactyly syndrome, Guadalajara type 2: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
• Camptodactyly syndrome, Guadalajara type 3: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
• Camptodactyly syndrome, Guadalajara type III: A rare syndrome characterized mainly by a variety of defects including facial dysmorphism.
• Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
• Camptodactyly, tall stature, and hearing loss syndrome: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
• Candidiasis: Fungal infection of moist areas such as mouth or vagina
• Captopril - Teratogenic Agent: There is strong evidence to indicate that exposure to Captopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cardiac malformation: Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depending on the type of malformation.
• Carnevale-Canun-Mendoza syndrome: A rare disorder characterized by loss of bone tissue in the wrists and ankles as well as kidney problems.
• Carnevale-Hernandez-Castillo syndrome: An extremely rare disorder characterized by missing digits or parts of digits and a thumb that has three bones like a finger instead of the normal two.
• Carnevale-Krajewska-Fischetto syndrome: A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay.
• Carpal Tunnel Syndrome: Hand or wrist problems; often from repetitive motion.
• Carpal deformity - micrognathia - microstomia: A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth.
• Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
• Carpopedal spasm: spasm of the hands or feet
• Carpotarsal osteochondromatosis: A rare disorder characterized by a painless swelling in the ankles and wrists which restricts their range of motion. The swelling is caused by abnormal growths on the wrist and ankle bones. The number of joints involved is variable.
• Cartwright-Nelson-Fryns syndrome: A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities.
• Cataract, alopecia, sclerodactyly: A rare disorder characterized by cataracts, lack of hair and skin changes in the hands and feet.
• Central nervous system lymphoma, primary: A type of lymphoma that occurs in the central nervous system (brain and spinal cord). A lymphoma consists of cancerous lymphocytes which are a type of white blood cell. Symptoms vary according to the location of the lymphoma.
• Cephalopolysyndactyly: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relatively mild and doesn't cause many problems.
• Cerebro oculo skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
• Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
• Cervical hypertrichosis neuropathy: A very rare disorder characterized mainly by a hairy throat and abnormal sensations in the hands and feet.
• Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
• Charcot-Marie-Tooth disease - deafness: Charcot-Marie-Tooth disease is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Charcot-Marie-Tooth disease and deafness involves the usual CMT symptoms as well as deafness.
• Charcot-Marie-Tooth disease deafness recessive type: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.
• Charcot-Marie-Tooth disease, Type 1A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1A is inherited as an autosomal dominant pattern and involves the duplication of the PMP22 gene on chromosome 17.
• Charcot-Marie-Tooth disease, Type 1B: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1B is inherited as an autosomal dominant pattern and involves a defect in the MPZ gene on chromosome 1. The severity of the condition is variable depending on the age of onset with severe infantile cases resulting in the inability to walk at an early age.
• Charcot-Marie-Tooth disease, Type 1C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1C is inherited as an autosomal dominant pattern and involves a defect in the LITAF/SIMPLE gene on chromosome 16.
• Charcot-Marie-Tooth disease, Type 1D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1D is caused by a defect of the ERG2 gene on chromosome 10 and usually results in a severe form of the disease.
• Charcot-Marie-Tooth disease, Type 1E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness.
• Charcot-Marie-Tooth disease, Type 1F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1F is caused by a defect of a gene in chromosome 8 and involves the neurofilament light chain protein.
• Charcot-Marie-Tooth disease, Type 2A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function.
• Charcot-Marie-Tooth disease, Type 2AI: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A1 has an autosomal dominant inheritance and involves a defect in the KIF1B gene on chromosome 1p36.
• Charcot-Marie-Tooth disease, Type 2AII: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2A2 has an autosomal dominant inheritance and involves a defect in the MFN2 gene on chromosome 1p36.
• Charcot-Marie-Tooth disease, Type 2C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in chromosome 12 and involves diaphragm and vocal cord weakness as well as hand and foot problems.
• Charcot-Marie-Tooth disease, Type 2D: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2D has an autosomal dominant inheritance and involves a defect in the glycyl RNA synthetase gene on chromosome 7p15. The hands tend to be more severely affected than the feet.
• Charcot-Marie-Tooth disease, Type 2E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2C has an autosomal dominant inheritance and involves a defect in the neurofilament light gene on chromosome 8p21.
• Charcot-Marie-Tooth disease, Type 4A: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4A has an autosomal recessive inheritance and involves a defect in the GDAP 1 protein gene on chromosome 8. The recessive forms of CMT tend to be more severe than the dominant form and often involve hand and foot problems as well as additional systemic symptoms.
• Charcot-Marie-Tooth disease, Type 4B1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B1 has an autosomal recessive inheritance and involves a defect in MTMR2 gene on chromosome 11.
• Charcot-Marie-Tooth disease, Type 4C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the KIAA1985 gene on chromosome 5. It involves motor and sensory problems as well as scoliosis.
• Charcot-Marie-Tooth disease, Type 4E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the EGR2 gene on chromosome 10.
• Charcot-Marie-Tooth disease, Type 4F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4F has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect in the PRX gene on Chromosome 19q13.
• Charcot-Marie-Tooth disease, Type 4G: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4G has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect on Chromosome 10.
• Charcot-Marie-Tooth disease, Type 4H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4H has an autosomal recessive form of inheritance and involves a defect on Chromosome 11.
• Charcot-Marie-Tooth disease, X-linked: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.
• Charcot-Marie-Tooth disease, X-linked recessive, 5: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X5 is an inherited defect of the X chromosome and affects males to a greater degree than females. In addition to normal CMT symptoms it also involves deafness and eye problems.
• Charcot-Marie-Tooth disease, X-linked, 1: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X1 is an inherited defect of the X chromosome (defect in GJB1 gene) and affects males to a greater degree than females. Transient central nervous system symptoms are also sometimes involved.
• Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
• Charcot-Marie-Tooth, demyelinating, autosomal recessive: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritance and is a severe form of the disease.
• Charlie M syndrome: A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs.
• Chemical poisoning - Allyl chloride: Allyl chloride is a chemical used mainly in the manufacture of epichlorohydrin and glycerin but is also used in the production of products such as polyester, varnish plastic adhesive, insecticides, perfumes and pharmaceuticals. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Aluminum: Aluminum is a chemical used mainly for metallurgical purposes and can be found in packaging, electrical parts, vehicles, cooking utensils, construction materials and building components. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Asbestos: Asbestos is a chemical used in a wide range of materials: heat and sound insulation, wall and ceiling panels, pipe insulation, floor tiles, toasters, cements, brake pads, roofing materials and furnaces. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - DDD: DDD is a chemical used mainly as a pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - DDT: DDT is a chemical used mainly as a pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemke-Oliver-Mallek syndrome: A very rare syndrome characterized mainly by eye and finger and toe abnormalities.
• Chiari Malformation: Protrusion of the brain down the spinal column.
• Chilblain: Skin inflammation usually in cold weather
• Chlorpromazine - Teratogenic Agent: There is evidence to indicate that exposure to Chlorpromazine (a neuroleptic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Chondrodysplasia punctata, Sheffield type: A rare genetic disorder characterized by bone anomalies, failure to thrive and unusual facial features. The bone anomalies consists of abnormal calcification in various parts of the body such as the feet, toes, ankle, tailbone, vertebrae, top of thigh, upper arm and laryngeal cartilage. The calcification abnormalities tend to resolve after within the first 5 years.
• Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Chondroectodermal dysplasia: An inherited skeletal dysplasia marked that results in short-limbed dwarfism, development of an extra finger as well as cardiovascular impairments. Also called Ellis-van Creveld syndrome.
• Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
• Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
• Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 10 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 10, distal trisomy 10q: A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
• Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
• Chromosome 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 12 trisomy: A rare chromosomal disorder where there are three copies of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
• Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12p partial deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
• Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
• Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Chromosome 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
• Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
• Chromosome 14q, terminal deletion: A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers.
• Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
• Chromosome 15 trisomy: A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15.
• Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
• Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 16q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
• Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
• Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 2, monosomy 2pter p24: A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities.
• Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
• Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 20q duplication syndrome: A rare chromosomal disorder involving a duplication of the long arm (q) of chromosome 20 resulting in various physical and developmental abnormalities.
• Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
• Chromosome 21, tetrasomy 21q: A rare chromosomal disorder where there is four copies of the long arm of chromosome 21 instead of the normal two which results in various physical and mental anomalies.
• Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 22 monosomy syndrome: A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities.
• Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
• Chromosome 22, monosome mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 22, monosomy mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies.
• Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
• Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
• Chromosome 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• Chromosome 22q13 deletion: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
• Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
• Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
• Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
• Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
• Chromosome 5, trisomy 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 5p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 5 rather than the normal two copies.
• Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
• Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6, monosomy 6p23: A very rare chromosomal disorder characterized by various abnormalities including mental retardation, facial, finger and toe anomalies as well as heart, skeletal and neurological problems.
• Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6, partial trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7 deletion p21-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
• Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
• Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
• Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
• Chromosome 8, monosomy 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8, trisomy 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
• Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
• Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
• Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
• Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
• Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
• Chromosome 9q duplication/chromosome 9p deletion syndrome: A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism).
• Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
• Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
• Chronic Myeloproliferative Disorders: A group of blood cancers where excessive numbers of blood cells are made by overactive or cancerous bone marrow. The number of excess blood cells tends to grow slowly. Examples of such disorders includes chronic myelogenous leukemia, polycythemia vera and essential thrombocythemia. The symptoms are determined by which particular blood cancer is involved.
• Chronic bronchitis: A condition which is characterized by the chronic inflammation of ones or more of the bronchi
• Chronic fatigue syndrome: A persistent debilitating fatigue of recent onset
• Chronic inflammatory demyelinating polyneuropathy: A rare disorder involving swelling of nerve roots and destruction of the protective layer around nerves. Severe symptoms can take up to a year or more to develop.
• Chronic necrotizing vasculitis: Inflammation and destruction of blood vessel walls which leads to death of associated tissue. Symptoms are determined by the extent and location of the blood vessel inflammation. The inflammation possibly has autoimmune origins. It can occur in condition such as rheumatoid arthritis, systemic lupus erythematosus and scleroderma.
• Ciguatera poisoning: Rare toxic food poisoning from eating contaminated fish
• Ciliary dyskinesia-bronchiectasis: A very rare disorder where the cilia fail to move. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. The lack of ciliary movement can cause a lung disease called bronchiectasis where a build up of mucus causes infections and airway damage. The airways then become enlarged. The condition can become progressively worse with time and can result in serious breathing problems.
• Clark-Baraitser syndrome: A very rare syndrome characterized mainly by tallness, large head, mental retardation and various facial anomalies.
• Classic migraine: Migraine is a neurological disorder that generally involves repeated headaches. Some people also have nausea, vomiting, and other symptoms. Most people with migraines do not have any warning before it occurs. However, some people have a visual disturbance called an aura before the headache starts.
• Cleft lip - palate - abnormal thumbs - microcephaly: A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate.
• Cleft lip - palate - ectrodactyly: A very rare syndrome characterized by a cleft lip and palate and missing fingers and toes.
• Cleft lip palate - oligodontia - syndactyly - pili torti: A very rare syndrome characterized by a cleft lip and palate, webbed fingers, missing teeth and hair abnormality (pili torti).
• Cleft palate - cardiac defect - genital anomalies - ectrodactyly: A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations.
• Cleft upper lip, median - cutaneous polyps: A rare birth disorder characterized mainly by a cleft in the upper lip, central nervous system tumors and skin polyps.
• Clinodactyly: Curving of the fifth finger towards the fourth finger.
• Clubbed fingers: The proliferation of the soft tissue around the ends of fingers
• Clubbing of fingers: Clubbing is a thickening of the flesh under the toenails and fingernails which is associated to a number of diseases
• Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
• Cockayne syndrome type 1: A rare inherited condition characterized by short stature, light sensitivity and a prematurely aged appearance. Type 1 is an early-onset form and involves progressive symptoms that usually start after 1 year of age.
• Cockayne syndrome type 2: A rare inherited condition characterized by severely impaired neurological development. Type 2 is a congenital form of the disorder and symptoms are apparent from birth.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Cold hands: Feeling of coldness affecting the hands
• Cold-induced sweating syndrome 2: A rare disorder characterized mainly by the inability to sweat in hot weather and excessive sweating on exposure to cold weather.
• Collins-Dennis-Clarke-Pope Syndrome: A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects.
• Common Variable Immunodeficiency: An immunodeficiency disorder involving low blood gamma globulin levels which results in an increased susceptibility to infections. The condition may be inherited or can be caused by certain drugs (levamisole, hydantoin and carbamazepine).
• Common ventricle: A congenital heart defect where the wall separating the two heart ventricles is completely missing.
• Compulsive finger picking: A form of obsessive compulsive disorder where a person compulsively picks at the skin on their fingers, especially around the nails. Sufferers can feel the pain they inflict on themselves but the feelings of gratification and stress relief prevent them from stopping. The severity and extent of damage to the skin is variable. Stress and anxiety can trigger the compulsive finger picking.
• Congenital arteriovenous shunt: A rare birth defect involving the abnormal passage of blood between arteries and veins. The range and severity of symptoms is determined by the number, size and location of the arteries and veins involved.
• Congenital brain dysgenesis due to glutamine synthetase deficiency: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in severe brain malformations and infant death within weeks of birth.
• Congenital cardiovascular malformations: The abnormal development of heart blood vessels. Specific examples of this condition includes hypoplastic left heart syndrome, coarctation and tricuspid atresia.
• Congenital disorder of glycosylation type 1H: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).
• Congenital disorder of glycosylation type X - Bombay blood group phenotype: A rare inherited disorder characterized by abnormal neutrophil functioning which reduces the body's immunity. The abnormal neutrophils are unable to be transported to sites of infection due to their inability to adhere to certain blood vessel components which would normally lead them to the infection site. Infections may be life-threatening as the body is unable to destroy bacteria effectively. Type 2 LAD is where neutrophils can't adhere to necessary blood vessel components due to the absence of proteins on the blood vessel walls needed to bind and guide the neutrophils to the infection site.
• Congenital hepatic porphyria: A rare congenital disorder where there is an excess of porphyrin (pigments) in the body. The liver is responsible for making porpyrins.
• Conotruncal heart malformations: A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.
• Cormier Rustin Munnich syndrome: Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency.
• Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
• Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
• Cornelia de Lange syndrome 2: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
• Cornelia de Lange syndrome 3: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 3 is a very mild form of the disorder and is typified by mildly unusual facial appearance and no skeletal or limb malformations.
• Corneodermatoosseous syndrome: A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems.
• Coronal synostosis, syndactyly and jejunal atresia: A very rare syndrome characterized mainly by webbed toes, blocked small intestine and premature fusion of certain skull bones (coronal).
• Corpus callosum agenesis - polysyndactyly: A rare syndrome characterized by skin and gastrointestinal defects, extra digits and skull and facial anomalies.
• Cortada Koussef Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
• Cortada-Kousseff-Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
• Cradle Cap: Common scalp condition in babies
• Cranio osteoarthropathy: A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing.
• Cranioacrofacial syndrome: A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies.
• Craniodigital syndrome - mental retardation: A very rare syndrome characterized by webbed fingers and toes, mental retardation and skull and facial anomalies.
• Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
• Craniofrontonasal syndrome Teebi type: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
• Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
• Craniosynostosis - brachysyndactyly of hands and absence of toes: A rare condition characterized mainly by premature fusion of skull bones, limb defects and a cleft lip or palate.
• Craniosynostosis Fontaine type: A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia).
• Craniosynostosis Philadelphia type: A rare disorder characterized primarily by the premature fusion of several skull bones as well as the incomplete separation of fingers and toes (syndactyly). The condition has been reported in five generations of one family.
• Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.
• Crossed polydactyly: Hand and foot anomalies involving extra digits and webbing. This form is characterized by involvement of the outer part of the hand and the inner part of the feet e.g. extra fingers next to the smallest finger and extra big toes.
• Crossed polydactyly type 1: A birth defect where there is an extra big toe combined with and extra finger on the opposite side to the thumb or and extra thumb and an extra toe on the opposite side to the thumb. Webbing of various fingers and toes is also often present.
• Crossed polysyndactyly: A rare malformation characterized by an extra finger beside the small finger, duplication of the big toe and webbing of various fingers and toes.
• Cryptomicrotia - brachydactyly syndrome: A very rare syndrome characterized mainly by ear malformations and short fingers and toes.
• Cushing's symphalangism: A rare syndrome characterized by deafness and the fusion of joints in the middle of fingers and toes as well as fusion of hand and foot bones.
• Cushing-like symptoms: Symptoms similar to those of Cushing's disease
• Cyclophosphamide - Teratogenic Agent: There is evidence to indicate that exposure to Cyclophosphamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Cyprus facial neuromusculoskeletal syndrome: A rare inherited syndrome characterized by variable neurological, muscular and skeletal abnormalities as well as a characteristic face.
• Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
• Cystic Hygroma: A progressive condition characterized by a sac filled with lymphatic fluid that forms in the lymphatic system, usually at the nape of the neck but sometimes in other parts of the body.
• Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webvbed fingers and toes and abnormal spinal development.
• Dactylitis: Sausage shaped swelling of the fingers and the toes.
• Dana syndrome: A rare inherited disorder characterized by the gradual degeneration of the white matter of the spinal cord and pernicious anemia. Various neurological symptoms can result.
• Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy: A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type).
• De Lange 1: A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities.
• De Quervains' disease: Inflammation of the tendons in the thumb which can be very painful. It can be caused by overuse of the thumb or wrist which can occur in activities such as knitting, skiing and lifting heavy objects. The condition primarily occurs in females aged 30 to 50 years.
• Dejerine-Klumpke syndrome: A rare condition where a lower spine lesion causes paralysis of the forearm and hand muscles as well as eye problems. The lesion may occur during birth or as a result of infection, tumor or trauma.
• Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
• Del(1) (pter-p36.2): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range and severity of symptoms is variable.
• Del(1) (q25.2-q31.2): A very rare chromosomal disorder where a portion of the long arm (q25.2-q31.2) of chromosome one is missing.
• Deletion 10q: A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
• Deletion 22q13: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
• Deletion 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
• Deletion 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits.
• Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Deletion 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Demyelinating disorder: Any condition that is characterised by the destruction of the myelin sheaths of the nerves
• Dermato-cardio-skeletal syndrome Borrone type: A rare progressive syndrome characterized by skin, heart and skeletal abnormalities.
• Dermatocardioskeletal syndrome, Boronne type: A very rare syndrome characterized mainly by thick skin, thick gums, acne, short fingers and a heart defect.
• Dermatoleukodystrophy: A very rare progressive brain disease associated with thick wrinkled skin. Only two reported cases with both dying within three years of birth.
• Dermatomyositis: A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash.
• Dermatoosteolysis, Kirghizian type: A rare condition characterized by a variety of abnormalities including missing teeth, recurring skin ulceration, eye problems and nail symptoms.
• Desmoid tumor: Benign tumors that occur in soft tissue and often develop in tendons, ligaments and tend to occur in the arms, legs and abdomen. The tumors are quite aggressive in that they are difficult to get rid of an though they aren't malignant, they can spread to surrounding tissue.
• Devergie syndrome: A chronic skin disorder involving the development of raised spots on the skin that grow and merge into each other to produce large red scaling plaques.
• Dextroamphetamine - Teratogenic Agent: There is evidence to indicate that exposure to Dextroamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Dextrocardia-bronchiectasis-sinusitis: A genetic disorder characterized by sinusitis, bronchiectasis and situs inversus.
• Diabetes insipidus: A condition which is characterized by polyuria causing dehydration and resulting in great thirst
• Diabetes-like symptoms: Symptoms similar to those of diabetes
• Diabetic neuropathy: nerve damage which maybe motor, sensory and autonomic
• Diaphragmatic defect - limb deficiency - skull defect: A very rare syndrome characterized mainly by a defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity, poor skull calcification and limb abnormalities involving missing or abnormal bones in the arms or legs.
• Diastrophic dysplasia: A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities.
• Dincsoy-Salih-Patel syndrome: A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities.
• Dinno-Shearer-Weisskopf syndrome: A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies.
• Discoid lupus erythematosus: Form of lupus affecting the skin.
• Dislocated elbow: Dislocation of the elbow joint
• Distal arthrogryposis syndrome: A rare genetic disorder characterized by congenital contractures and other physical defects.
• Distal arthrogryposis, Moore-Weaver type: A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities.
• Distal hereditary motor neuropathy, type V: An inherited condition characterized by progressive muscle weakness in the hands and feet due to nerve cell damage in the spinal cord.
• Distal myopathy: An inherited muscle condition that tends to mainly affect the end portions of arms and legs - hands, feet, forearms and lower legs.
• Distal myopathy with vocal cord weakness: A very rare syndrome characterized mainly by muscle weakness in the end portion of the arms and legs as well as the vocal cord and pharynx.
• Distal myopathy, Welander type: A very slowly progressing muscle fiber degeneration that starts as mild weakness in the small muscles of hands and feet and may eventually spread to neighboring muscles.
• Distal trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Distinctive Craniofacial Features - Pterygia - Mental Retardation: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Dobriner syndrome: An inherited metabolic disorder involving a deficiency of coproporphyrinogen oxidase. The condition is similar to but milder than intermittent porphyria and sometimes includes photosensitivity.
• Double outlet right ventricle: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. The severity of symptoms varies depending on the location of the connecting hole in the heart and the exact location of the two arteries with respect to the heart.
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• Duhring-Brocq disease: A very itchy skin rash consisting of red bumps and blisters which is often associated with intestinal sensitivity to gluten that is consumed.
• Duodenal atresia tetralogy of Fallot: A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through.
• Dup (1) (q21.2-qter) and dup (14)(pter-q13): A very rare chromosomal disorder where a portion of the long arm (q21.2-qter) of chromosome one and the long arm of chromosome 14 (pter-q13) is duplicated. In the reported case, the fetus was aborted.
• Dup (1) (q25-qter) and del (18p): A very rare chromosomal disorder (single reported case) where the end portion of the long arm (q25-qter) of chromosome one is duplicated and the short arm of chromosome 18 is missing.
• Dup (1) (q32-qter) and del (7)(q32-qter): A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the long arm of chromosome 7 (q32) is deleted. There have only been a couple of reported cases and symptoms may vary somewhat between patients.
• Dup (5)(q22-q23): A rare chromosomal disorder involving duplication of a certain section (q22-q23) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q31-qter): A rare chromosomal disorder involving duplication of a certain section (q31-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q32-qter): A rare chromosomal disorder involving duplication of a certain section (q32-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Dup (5)(q33-qter): A rare chromosomal disorder involving duplication of a certain section (q33-qter) of the long arm of chromosome 5 which results in various abnormalities.
• Duplication 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Duplication 12p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Duplication 13: A rare and very severe chromosome disorder leading to mental retardation and physical defects. It is so severe that many babies die soon after birth. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Duplication 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Duplication 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 5q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6q, partial: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
• Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
• Dupuytren's contracture: A progressive condition involving the thickening of deep tissue that runs from the palm to the fingers which results in the fingers being pulled into the palm
• Dwarfism: An abnormally short individual
• Dwarfism - stiff joint - ocular abnormalities: A very rare form of dwarfism characterized by short stature as well as stiff joints and eye abnormalities.
• Dwarfism, short-limb - absent fibulas - very short digits: A very rare disorder characterized by short limbs, missing calf bones and very short fingers and toes due to under developed or missing bones.
• Dysostosis acral with facial and genital abnormalities: A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Robinow syndrome tends to be milder than the recessive form.
• Dysostosis peripheral: A rare condition characterized by malformed bones in the hands and feet. The severity of the malformation is variable.
• ECP syndrome: A rare malformation syndrome characterized by a cleft palate and missing fingers.
• EEC syndrome: A rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
• EEC syndrome without cleft lip/palate: A rare syndrome characterized mainly by hand, foot deformities as well as hair, skin, nail and tooth abnormalities (ectodermal dysplasia).
• Ebstein's anomaly: A heart defect where the tricuspid valve is malformed
• Ectodermal dysplasia - arthrogryposis - diabetes mellitus: A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities.
• Ectodermal dysplasia - ectrodactyly - macular dystrophy: A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers.
• Ectodermal dysplasia - neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
• Ectrodactyly - polydactyly: A rare syndrome characterized primarily by extra digits, missing digits, cleft foot or cleft hand.
• Ectrodactyly cleft palate syndrome: A rare malformation syndrome characterized by a cleft palate and missing fingers.
• Ectrodactyly dominant form: A genetic disorder where fingers or parts of fingers are missing and is often associated with a cleft in the hand. There are many variations of this condition.
• Ectrodactyly, recessive form: A rare recessively inherited disorder where missing fingers give the hands a "lobster-claw" appearance.
• Eczema: Skin rash usually from allergic causes.
• Edwards-Gale Syndrome: A rare hand and foot abnormality where the fingers and toes are unusually short and the first part of the fingers or toes are held in a fixed contracted position.
• Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
• Ehlers-Danlos syndrome type V: A rare genetic connective tissue disorder characterized by skin hyperextensibility, moderate joint hypermobility and moderate vascular fragility.
• Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
• Eisenmenger Syndrome: Increased lung blood pressure that can result from conditions such as a hole in the wall between the two heart chambers.
• Elattoproteus syndrome: A rare disorder involving a lack of growth of various parts of the body such as the skin and the fatty layer under the skin.
• Elbow bleeding: Bleeding that occurs from the elbow
• Elbow blueness: A blue discolouration on the elbow
• Elbow bruise: A haematoma that occurs on the elbow
• Elbow burning sensation: A burning sensation located on the elbow
• Elbow coldness: A cold sensation occurring on the elbow
• Elbow conditions: Conditions that affect the elbow
• Elbow injury: An injury that affects the elbow
• Elbow itch: A sensation that causes a desire to scratch the skin of the elbow
• Elbow lump: A palpable lesion located anatomically on the elbow
• Elbow numbness: A loss of sensation located at or around the elbow
• Elbow pain: Pain or discomfort at the elbow
• Elbow paralysis: A loss of the motor and or sensory function of the elbow due to either a muscular or neural mechanism
• Elbow paresthesia/ tingling: A loss of sensation located at or around the elbow
• Elbow rash: An eruption on the skin of the elbow.
• Elbow spasm: A sudden involuntary contraction of the muscles of the elbow joint.
• Elbow sprain: Damage to ligaments in the elbow.
• Elbow swelling: A swelling located on the elbow
• Elbow symptoms: Symptoms affecting the elbow
• Elbow tingling/ paresthesias: A tingling and numbness located in the elbow
• Elbow weakness: A weakness of the muscles of the elbow
• Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
• Emery-Nelson syndrome: A rare condition characterized by a flat face and hand and foot abnormalities.
• Emphysema: Emphysema is a type of chronic obstructive pulmonary disease (COPD). It is defined as an abnormal, permanent enlargement of the air spaces distal to the terminal bronchioles accompanied by destruction of their walls and without obvious fibrosis.
• Enalapril - Teratogenic Agent: There is evidence to indicate that exposure to Enalapril (an ACE inhibitor) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Encephalopathy progressive - optic atrophy: A rare birth disorder characterized by progressive brain disease, facial anomalies and eye problems.
• Endodermal sinus tumor: A form of malignant germ cell tumor that occurs mainly in young children. They can occur in the testis, ovaries, uterus, abdomen, thorax, tailbone region, vagina, liver, retroperitoneum and pineal ventricle of the brain. Symptoms will vary depending on the exact location of the tumor.
• Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
• Engelhard-Yatziv syndrome: A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities.
• Enlarged hands: abnormal fluid collection in the interstial tissue
• Eosinophilic fasciitis: A rare disorder where the skin on the limbs become painfully inflamed and looses it's elasticity.
• Epicondylitis: Elbow injury from repeated movements.
• Epidermoid carcinoma: A non-small-cell type of lung cancer. The cancer develops from cells that line the inside of the lungs.
• Epileptic encephalopathy, early infantile, 2: A genetic form of epilepsy which is severe and starts during infancy. The condition is considered an atypical form of Rett syndrome due to the development of stereotypical hand movements and repetitive behaviors. This form of the condition is caused by a defect on the CDKL5 gene.
• Epimetaphyseal skeletal dysplasia: A rare syndrome characterized mainly by abnormal bone development.
• Epiphyseal dysplasia - hearing loss - dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Epiphyseal dysplasia, multiple: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. There are 6 different subtypes of the disease, with each caused by a mutation in a different gene.
• Epiphyseal dysplasia, multiple, 1: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the gene for COMP which is a cartilage protein.
• Epiphyseal dysplasia, multiple, 2: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the COL9A2 gene.
• Erb's Palsy: Paralysis of the arm or hand often related to childbirth injury (also Brachial plexus palsy).
• Erysipelas: An infectious skin disease with symptoms such as redness, swelling, fever, large blisters and pain.
• Erythema nodosum: Allergic skin condition usually on the legs
• Erythrasma: A condition where there is a bacterial skin infection that is located in the armpits or the groin
• Erythromelalgia: A rare disorder characterized by periods of burning pain, redness and warmth in the feet and hands.
• Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.
• Ethylmalonic aciduria: A very rare inherited disorder characterized by neurological and vascular symptoms caused by an excessive buildup of ethylmalonic aciduria.
• Etretinate - Teratogenic Agent: There is evidence to indicate that exposure to Etretinate (a drug used to treat psoriasis) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ewing's sarcoma: Ewing's sarcoma is a malignant round-cell tumor. It is a rare disease in which cancer cells are found in the bone or in soft tissue. The most common areas in which it occurs are the pelvis, the femur, the humerus, and the ribs.
• Excessive dieting: Excessive limitation of food intake can lead to problems and effects such as dizziness, depression, intestinal problems, edema and impaired growth.
• Exercise-induced anaphylaxis: Exercise-induced anaphylaxis is a syndrome in which patients experience the symptoms of anaphylaxis, which occur only after increased physical activity. The symptoms include pruritus and urticaria (typically with giant hives), and, without emergency intervention, the patient may develop hypotension and collapse.
• Extragonadal Germ Cell Tumor: A rare form of cancer that originates in germ cells that are found in areas such as the brain, chest, tailbone or abdomen rather than the ovaries or testicles. Germ cells are the precursors for male sperm and female eggs. The symptoms are determined by the location and size of the tumor.
• Eyebrows duplication of, with stretchable skin and syndactyly: A rare syndrome characterized mainly by duplication of some of the eyebrow, increased skin elasticity and webbed fingers and toes.
• Eyebrows duplication syndactyly: A rare syndrome characterized mainly by duplication of some of the eyebrow, webbed fingers and toes and occasionally increased skin elasticity and other variable symptoms.
• FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
• FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
• FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
• FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
• FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
• FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
• FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
• Facio-auriculo-radial dysplasia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Faciodigitogenital syndrome, recessive form: A rare syndrome characterized by facial, digital and genital abnormalities.
• Facioskeletalgenital syndrome, Rippberger type: A rare syndrome characterized by facial, skeletal and genital abnormalities.
• Fahr's Syndrome: A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function.
• Fallot syndrome: A congenital heart disorder consisting of four heart defects - hole between the ventricles (ventricular septal defect), obstruction from right ventricles to the lungs (subpulmonary stenosis), overriding aorta and thickened right ventricle muscle.
• Falls: Recurrent unintentional falls
• Familial emphysema: A rare genetic form of emphysema caused by a deficiency of alpha-1 antitrypsin (AAT) which results in destruction of the elastin component of the lung structure. The disorder tends to run in families (familial).
• Familial pulmonary arterial hypertension: Familial pulmonary arterial hypertension refers to high blood pressure in the arteries that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition occurs in a familial pattern i.e. tends to run in families.
• Famotidine - Teratogenic Agent: There is evidence to indicate that exposure to Famotidine (used to treat and prevent ulcers) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.
• Femur-fibula-ulna syndrome: A very rare syndrome characterized mainly by abnormalities of the thigh, forearm and calf bone. The degree of abnormality and number of limbs involved is variable. The upper limbs are affected more than the lower limbs and the right side is affected more than the left side.
• Fibrochondrogenesis: A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
• Fibrosing alveolitis: A condition characterized by abnormalities in the fibrous tissues between lung alveoli which results in inflammation.
• Fibula aplasia complex - brachydactyly: A very rare syndrome characterized mainly by short fingers small or absent fibula (calf bone) and other bone abnormalities.
• Fibular aplasia - ectrodactyly: A very rare syndrome characterized mainly by various bone abnormalities involving the arms and feet.
• Fibular hypoplasia or aplasia - femoral bowing - oligodactyly: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Finger bleeding: Bleeding from the finger or fingers
• Finger blueness: A blue discolouration on the finger or fingers
• Finger bruise: A haematoma that occurs on the finger
• Finger clubbing: Swelling of the tissue beneath the fingernails, generally due to a chronic disease process elsewhere in the body
• Finger coldness: A cold sensation occurring on the finger or fingers
• Finger conditions: Conditions that affect the fingers
• Finger itch: A sensation that causes a desire to scratch the skin of the finger
• Finger lump: A palpable lesion located anatomically on the finger or fingers
• Finger numbness: Loss of feeling or sensation
• Finger pain: Pain affecting the fingers
• Finger paralysis: A loss of the motor and or sensory function of the finger due to either a muscular or neural mechanism
• Finger paresthesia: Finger tingling, prickling, numbness or burning sensations
• Finger rash: An eruption on the skin of the finger or fingers.
• Finger spasm: A sudden involuntary contraction of the muscles of the finger or fingers.
• Finger sprain: Damage to ligaments in a finger.
• Finger swelling: A swelling located on the finger or fingers
• Finger symptoms: Symptoms affecting any fingers
• Finger ulcers: The occurrence of skin ulcers on the fingers
• Finger weakness: A decrease in the usual strength of the movements of the finger or fingers
• Fingernail bleeding: Bleeding from the fingernail
• Fingernail blueness: A blue discolouration of the fingernail
• Fingernail bruise: A haematoma that occurs on the fingernail
• Fingernail itch: A sensation that causes a desire to scratch the fingernail
• Fingernail lump: A lump located on the fingernail
• Fingernail rash: A rash that is located in the fingernail
• Fingernail symptoms: Symptoms affecting the fingernails
• Finlay-Markes syndrome: A very rare syndrome characterized mainly by scalp, nipple and ear abnormalities.
• Fischer Syndrome: A rare condition characterized by unusual facial appearance, thickened skin on palms and soles, physical and mental delay and various other anomalies.
• Fisher (M.) syndrome: A rare type of nerve disease involving muscle coordination problems, eye muscle paralysis and absent reflexes. It appears to be caused by the body's own immune system destroying the protective layer around nerves. The condition is usually preceded by a viral illness and is not life-threatening.
• Fitzsimmons-Guilbert syndrome: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
• Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
• Folliculitis: An inflammatory reaction which occurs in the follicles
• Fontaine-Farriaux-Blanckaert syndrome: A rare syndrome characterized by premature fusion of skull bones as well as various other abnormalities.
• Forearm bruise: A haematoma that occurs on the forearm.
• Forearm burning sensation: A burning sensation on the forearm
• Forearm injury: Any injury that occurs to the forearm
• Forearm itch: A sensation thatcauses a desire to scratch the skin of the forearm
• Forearm pain: A feeling of distress and agonycaused by the stimulation of pain nerve endings in the forearm
• Forearm paresthesia/ tingling: A loss of sensation located in the underarm
• Forearm rash: An eruption on the skin of the forearm.
• Forearm tingling/ paresthesias: A tingling and numbness located in the forearm
• Forearm weakness: A decrease in the usual strength of the movements of the forearm
• Fosinopril - Teratogenic Agent: There is evidence to indicate that exposure to Fosinopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Fox-Fordyce disease: A rare disorder where sweat trapped in the sweat glands results in itching inflammation of the involved tissue
• Fractures: Breakage of bones
• Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
• Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
• Fraser-Jequier-Chen syndrome: A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis).
• Frias syndrome: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
• Frints - De Smet - Fabry - Fryns syndrome: A rare syndrome characterized by a variation of Larsen syndrome where the physical manifestations are asymmetrical. This is believed to be a mosaic form of the genetic condition where the genetic anomaly is present in only some of the body's cells leading to asymmetric manifestations.
• Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
• Frozen shoulder: disorder in which the shoulder capsule, the connective tissue surrounding the glenohumeral joint of the shoulder, becomes inflamed and stiff, and grows together with abnormal bands of tissue, called adhesions, greatly restricting motion and causing chronic pain.
• Fryns-Aftimos syndrome: A rare syndrome characterized mainly by abnormal brain development, epilepsy, mental retardation and unusual facial appearance.
• Fryns-Fabry-Remans syndrome: A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body.
• Fryns-Smeets-Thiry syndrome: A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities.
• Fuhrmann syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Fuhrmann-Rieger-de Sousa syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Fukuyama type muscular dystrophy: A rare inherited muscle wasting disease occurring predominantly in Japan and characterized by mental retardation and muscle weakness from infancy.
• Gamma Hydroxybutyric Acid - Teratogenic Agent: There is evidence to indicate that exposure to Gamma Hydroxybutyric Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ganglion cyst: Cyst affecting the sheath of tendons
• Garret-Tripp syndrome: A rare syndrome characterized mainly by extra digits, a lack of hair and scaly skin on the scalp, face and neck.
• Genoa syndrome: A rare disorder characterized mainly by premature fusion of skull bones and partial separation of the two brain halves.
• Gerstmann's Syndrome: Brain defect causing various cognitive problems.
• Gigantism: Gigantism refers to abnormally high linear growth due to excessive action of insulin-like growth factor-I (IGF-I) while the epiphyseal growth plates are open during childhood.
• Gigantism partial - nevi - hemihypertrophy - macrocephaly: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
• Glass-Chapman-Hockley syndrome: A rare syndrome characterized mainly by short fingers, facial anomalies and premature fusion of skull bones giving the head an abnormal shape.
• Gloomy syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
• Glutamine deficiency, congenital: A rare genetic metabolic disorder characterized by a deficiency of the glutamine synthase enzyme. This results in a lack of glutamine in the serum, urine and brain and spinal fluid. The condition results in infant death within weeks of birth.
• Gms syndrome: A rare syndrome characterized by mental retardation, short stature and an eye abnormality.
• Golden-Lakin syndrome: A rare syndrome characterized by a webbed neck, sunken chest, curved spine abd various other abnormalities.
• Golfer's elbow: Golfer's elbow is also known as medial epicondylitis. It is an inflammatory condition of the elbow which in some ways is similar to tennis elbow.
• Gollop Coates syndrome: A very rare type of arm malformation involving only one arm. The lower part of the upper arm bone is forked as well as the absence of some digits and fusion of others.
• Goodman camptodactyly: A rare genetic disorder characterized by head, hand and genital anomalies. It is a mild form of Carpenter syndrome without mental retardation and less pronounced deformities.
• Goossens-Devriendt syndrome: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
• Gordon Syndrome: A genetic musculoskeletal disorder characterized mainly by camptodactyly, cleft palate and club foot. The type and severity of symptoms is variable.
• Gorlin-Chaudhry-Moss Syndrome: A very rare inherited condition involving various physical and mental abnormalities.
• Gottron's syndrome: A very rare inherited disorder characterized by the gradual loss of fatty tissue under the skin which results in a prematurely aged appearance. The hands and feet tend to be the most affected with thin, delicate skin.
• Gout: Painful joints, most commonly the big toe.
• Gracile bone dysplasia: An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities.
• Grange syndrome: A rare syndrome characterized by the abnormal narrowing of various arteries, high blood pressure, heart defects, fragile bones and short, webbed digits. The congenital heart defects are not present in all cases.
• Granuloma annulare: A harmless skin disease characterized by raised, bumpy, ring-shaped skin lesions.
• Grebe Syndrome: A rare genetic disorder characterized by very short limbs and extra fingers and toes.
• Green nail syndrome: A nail infection caused by Pseudomonas aeruginosa and sometimes Aspergillus. The infection tends to occur in women who spend a lot of time with their hands in soapy water or detergents. The nails develop varying patterns of greenish discoloration.
• Greenberg dysplasia: A very rare form of short-limbed dwarfism.
• Greig Cephalopolysyndactyly Syndrome: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities.
• Grip Disorders: The loss/decline of grip strength.
• Grob syndrome: A rare disorder characterized by a partial lack of hair, epicanthus, cleft lip and palate, mental deficiency, short fingers and various other anomalies.
• Growth Hormone Receptor Deficiency: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Growth deficiency brachydactyly unusual facies: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
• Growth plate injuries: Injury to the growing ends of young bones.
• Guillain-Barre syndrome: An acute condition which is characterized by polyradiculoneuropathy that affects the peripheral nervous system
• Gurrieri-Sammito-Bellussi syndrome: A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities.
• HEM dysplasia: A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death.
• Hailey-Hailey disease: A rare autoimmune skin disorder characterized by clusters of small blisters that erupt in high friction areas such as the armpits and groin and neck. Hot, humid weather, skin infections and UV radiation often trigger the condition.
• Halal syndrome: A very rare syndrome characterized mainly by a small head and a cleft palate.
• Hall-Riggs mental retardation syndrome: A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities.
• Halm-Munk syndrome: A rare inherited disorder involving red, thickened patches of skin on the palms and soles, skin infections and nail and teeth abnormalities.
• Hand Spasm: Violent and painful contraction of the muscles in the hands.
• Hand bruise: A haematoma that occurs on the hand
• Hand coldness: A cold sensation occurring on the hand
• Hand conditions: Any condition that affects the hand
• Hand cramps: The occurrence of muscular cramps that occur in the hand
• Hand fracture: A fracture of one or several of the bones that create the hand
• Hand injury: Any injury to the hand
• Hand itch: A sensation that causes a desire to scratch the skin of the hand
• Hand numbness: Loss of feeling or sensation
• Hand pain: Pain affecting one or both hands
• Hand paresthesia: Hand tingling, prickling, numbness or burning sensations
• Hand rash: An eruption on the skin of the hand.
• Hand swelling: Swelling of one or both hands
• Hand symptoms: Symptoms affecting the hand
• Hand tremor: Shakiness of the fingers or hand
• Hand tremors: The occurrence of a tremor that is evident in the hand
• Hand weakness: Weakness of one or both hands
• Hand, Foot, & Mouth Disease: Common contagious viral infant or child condition
• Hand-foot-uterus syndrome: A rare genetic condition characterized by hand, foot and uterus abnormalities.
• Hanhart Syndrome: An autosomal recessive disorder due to a deficiency in the body of the tyrosine amino transferase enzyme.
• Hapnes-Boman-Skeie syndrome: A rare disorder where the abnormal attachment of tendons in the fingers prevents them from opening and closing normally.
• Haspeslagh Fryns Muelenaere syndrome: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Heart attack: An acute myocardial infarction
• Heart cancer: A malignancy that is located in the heart
• Heart defect, tongue hamartoma and polysyndactyly: A very rare syndrome characterized mainly by webbed fingers, congenital heart defects and tongue tumors.
• Heart defects - limb shortening: A very rare syndrome characterized mainly by short limbs and heart defects.
• Heart-hand syndrome, Slovenian type: A rare disorder characterized by heart and hand abnormalities.
• Heart-hand syndrome, Spanish type: A very rare syndrome characterized mainly by heart and hand abnormalities.
• Heavy hands:
• Hemoglobin S/hemoglobin Lepore, Boston: A blood disorder that mainly causes hemolytic anemia with great variability of symptoms.
• Hemolytic uremic syndrome: A rare condition characterized by acute kidney failure, hemolytic anemia and thrombocytopenia (reduced blood platelet count). The condition is often caused by upper respiratory infections or infectious diarrhea.
• Hepatic encephalopathy syndrome: A rare syndrome involving the association of advanced liver disease and neurological problems.
• Herbal Agent adverse reaction - Senna: Senna can be used to treat constipation or to prepare the colon for a rectal examination. The herbal agent can cause an adverse reaction in some people.
• Hereditary amyloidosis: An inherited form of amyloidosis which is characterized by a build up of the protein amyloid in tissues and organs. This form of amyloidosis tends to affect mainly the nervous system and gastrointestinal tract. Symptoms are determined by the size and location of the amyloid deposits.
• Hereditary hypothyroidism: Hereditary hypothyroidism is a condition in which there is a defect in the thyroid gland which leads to increased production of TSH reduced production of thyroid hormone.
• Hereditary neuropathy with liability to pressure palsies: A rare disorder where the peripheral nerves are more sensitive to pressure than normal which results in recurring periods of numbness, tingling and sometimes loss of muscle function. The condition can affect one or more nerves such as the carpal tunnel nerve. Permanent damage to peripheral nerves can result from recurring episodes. The severity of symptoms are greatly variable from virtually asymptomatic to disability.
• Hereditary spastic paralysis, infantile onset ascending: A rare inherited progressive condition where the muscles of the arms, legs and face become increasingly weak and stiff due to damage to nerve cells that control muscle movement. The legs are affected first and then the arms and face - the symptoms ascend up the body. This condition involves mutations in the same gene and overlapping symptoms with juvenile primary lateral sclerosis but the difference is that primary lateral sclerosis only involves degeneration of the upper motor neurons whereas infantile-onset spastic paralysis is more severe and involves degeneration of upper and lower motor neurons.
• Herrmann Opitz arthrogryposis syndrome: A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature.
• Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
• Hip cancer: The presence of tumour growth in the bone of the hip, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast; cancer affecting bone of hip likely to affect other bones e.g. vertebra, ribs
• Hirsutism: A condition which is characterized by excessive body and facial hair
• Histidinuria, renal tubular defect: A very rare syndrome where a kidney defect causes high levels of histidine in the urine.
• Hodgkin's Disease: A form of cancer that affects the lymphatic system.
• Holoprosencephaly - ectrodactyly - cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
• Holoprosencephaly, recurrent infections, and monocytosis: A rare syndrome characterized by recurring infections and a brain anomaly. Death usually occurs during the first years of life due to sepsis.
• Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
• Homocystinuria syndrome: A rare genetic connective tissue disorder caused by an enzyme deficiency and characterized by dislocation of eye lens, malar flush and osteoporosis.
• Hoon-Hall syndrome: A very rare syndrome characterized mainly by dislocated joints and various other skeletal abnormalities.
• Humerospinal dysostosis - congenital heart disease: A very rare syndrome characterized mainly by various skeletal defects and heart disease which is present at birth.
• Humerus, trochlea, aplasia of: A very rare syndrome characterized by arm abnormalities primarily involving the absence of a part of the upper arm called the trochlea. The trochlea is the end of the arm bone which allows arm movement through it's pulley-like structure.
• Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
• Huntington's disease: Inherited disease causing progressive mental deterioration.
• Hydrops ectrodactyly syndactyly: A very rare disorder characterized mainly be webbed fingers and toes, hand defect and hydrops (abnormal accumulation of fluid in the fetus).
• Hydroxychloroquine - Teratogenic Agent: There is evidence to indicate that exposure to Hydroxychloroquine (an antimalarial drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Hyperphalangism - dysmorphy - bronchomalacia: A very rare syndrome characterized mainly by finger and toe abnormalities, unusual facial features and narrowed airways.
• Hypertension of pregnancy: Pregnancy hypertension is the development of high blood pressure during pregnancy. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe. The increased blood pressure can cause complications in pregnancy women e.g. eclampsia and HELLP syndrome. The blood pressure usually returns to normal after delivery.
• Hyperthyroidism: The excessive activity of the thyroid gland
• Hypertrophic neuropathy of Dejerine-Sottas: An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in numbness, muscle weakness and loss of function. The severity of the condition is variable.
• Hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood.
• Hyperventilation: Abnormally fast and deep breathing.
• Hypocalcemia: Low blood calcium levels
• Hypocalcemia, autosomal dominant: A dominantly inherited disorder of phosphate and calcium metabolism which results in low blood calcium levels. The severity of the condition is highly variable with some patients being asymptomatic.
• Hypochondroplasia: A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood.
• Hypomelanosis of Ito: A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities.
• Hypomelia - mullerian duct anomalies: A rare genetic disorder characterized by severely underdeveloped arms and uterine and vaginal abnormalities.
• Hypoparathyroidism: causesd by lack of PTH
• Hypoparathyroidism familial isolated: A rare familial condition involving low levels of parathyroid hormone which upsets the body's ability to regulate calcium and phosphate. The severity of symptoms is determined by the how low the parathyroid hormone level is.
• Hypoplasia of the tibia with polydactyly: A very rare syndrome characterized mainly by an extra little finger and toe as well as an underdeveloped shin bone.
• Hypotelorism - cleft palate - hypospadias: A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes.
• Hypothyroid goitre: Goitre is the enlargement of the thyroid gland and hypothyroid state is characterized by increased TSH levels and decreased T3 and T4 levels circulating in the body.
• Hypothyroidism: The decreased activity of the thyroid gland
• Idaho syndrome: A very rare syndrome characterized by a variety of abnormalities including clubfoot, mental retardation, finger abnormalities and a congenital heart defect.
• Idiopathic Parkinson's disease: Idiopathic Parkinson's disease is Parkinson's disease for which no particular cause can be determined - it is the most prevalent form of the condition. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Idiopathic Pulmonary Fibrosis: Lung fibrosis from unknown causes.
• Idiopathic edema: A condition involving salt retention that isn't a result of impaired heart, kidney or liver function.
• Idiopathic minimal change nephrotic syndrome: A rare kidney disorder which has no apparent cause. The filtering structures of the kidneys are only slightly damaged and appear to be almost normal. Progression to kidney failure is very rare.
• Idiopathic myopathy: A rare condition involving inflammation of the skeletal muscles which become weak and wasted.
• Idiopathic pulmonary hypertension: A rare condition where sclerosis of the pulmonary arteries cause cyanosis, polycythemia and heart failure.
• Immunoglobulinic amyloidosis: A disease characterized by the abnormal deposit of amyloid in various parts of the body, especially organs such as the kidneys, heart, liver, gastrointestinal tract and peripheral nerves. It occurs when plasma cells in the bone marrow produce too much of a protein portion of an antibody called the light chain. The exact symptoms are determined by the extent of the organ involvement.
• Inclusion Body Myositis: Progressive inflammatory muscle disease causing muscle weakness.
• Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
• Infant botulism food poisoning: Very dangerous food poisoning needing medical attention.
• Infantile axonal neuropathy: A very rare form of progressive nerve damage that starts early in life. The central nervous system is also usually involved.
• Inflammatory breast cancer: Inflammatory breast cancer is a rare and aggressive form of invasive breast cancer, where the skin of the breast becomes red, inflamed and pitted in appearance.
• Intertrigo: This is an erythematous skin condition which occurs in areas where there is apposition of the skin surfaces
• Ivemark Syndrome: A rare progressive disorder characterized by absence or abnormal development of the spleen and malformations of the heart vessels.
• Ives-Houston syndrome: A rare inherited syndrome characterized by retarded fetal growth, small head, malformed limbs and death before or soon after birth.
• Jacobs syndrome: A very rare syndrome characterized mainly by heart inflammation (pericardium), joint disease and permanent finger flexion. The number of joints affected is variable.
• Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
• Jeune syndrome - situs inversus: A very rare syndrome characterized mainly by short-limbed dwarfism, small chest, abnormally placed internal organs and various other abnormalities.
• Johnson-Munson syndrome: A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
• Joint injury - elbow: An injury to the elbow which is the joint between the upper and lower arm. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. An elbow injury can involve damage to the bones, ligaments or other tissues of the joint. The injury may be acute (e.g. trauma) or chronic (e.g. overuse).
• Joint injury - finger: An injury to the finger joints. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. A finger joint injury can involve damage to the bones, ligaments or other tissues of the joint. The injury may be acute (e.g. trauma) or chronic (e.g. overuse).
• Joint injury - wrist: An injury to the wrist which is the joint between the hand and lower leg. Severity of symptoms varies depending on the type and severity of the injury and often the primary symptom is pain. A wrist injury can involve damage to the bones, ligaments or other tissues of the joint. The injury may be acute (e.g. trauma) or chronic (e.g. overuse).
• Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance.
• Juberg-Hayward syndrome: A rare hereditary disorder characterized by a growth hormone deficiency as well as mouth and limb abnormalities.
• Juvenile Rheumatoid Arthritis: Chronic arthritis affecting children and teens
• KBG Syndrome: A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.
• Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
• Kawasaki disease: A childhood illness that generally affects the skin, mouth and lymph nodes.
• Kenny-Caffey syndrome, Type 1: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities. Type 1 is inherited in a recessive manner and is caused by a genetic defect located at chromosome 1q42-q43.
• Kenny-Caffey syndrome, Type 2: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
• Keratoderma palmoplantaris transgrediens et progrediens: A rare syndrome characterized mainly by coarse hair and superficial horny growths on the palms and soles. Short fingers and thin nails have also been observed.
• Keratosis palmoplantaris - periodontopathia - onychogryposis: A rare syndrome characterized by gum disease, nail and skin problems and various other anomalies.
• Kidney symptoms: Symptoms affecting one or both kidneys.
• Kienbock disease: A condition where interruption of the blood flow to the lunate bone (often due to wrist inflammation or injury) in the wrist damages it and impairs wrist movement.
• Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
• Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
• Knuckle coldness: A cold sensation occurring on the knuckles
• Knuckle pain: A feeling of distress and agonycaused by the stimulation of pain nerve endings in the knuckle
• Knuckle redness: A redness of the knuckle of the hand
• Knuckle swelling: A swelling located on the knuckles
• Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.
• Kumar levick syndrome: A rare syndrome characterized by missing or abnormal nails, missing fingers, permanently bent fingers and a finger-like thumb.
• LADD Syndrome: A very rare genetic disorder characterized by ear, teeth and tear duct abnormalities.
• Lacrimoauriculodentodigital syndrome: A rare genetic disorder characterized by ear, teeth and tear duct abnormalities.
• Lamotrigine - Teratogenic Agent: There is evidence to indicate that exposure to Lamotrigine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Landy-Donnai syndrome: A very rare disorder characterized by a missing fingers and hand bones, webbed fingers, duplicated big toe and hydrops.
• Laplane-Fontaine-Lagardere syndrome: A very rare syndrome characterized mainly by very short stature and progressive stiffness of joints including the spine and hips.
• Laron Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Pituitary Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Type Pituitary Dwarfism 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron syndrome type 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron syndrome type 2: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron-type Dwarfism Phenotypic Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron-type dwarfism: A rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results.
• Larsen syndrome, dominant type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual dish-shaped face. The dominant form tends to have less severe dwarfism and more severe flattening of the face and is less likely to include webbed fingers, cleft palate and genital anomalies than the recessive form.
• Larsen syndrome, recessive type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
• Larsen-like osseous dysplasia - dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
• Launois-Bensaude adenolipomatosis: A benign condition characterized by the development of lumps in the lymph nodes, especially in the neck, armpits and groin.
• Le Marec-Bracq-Picaud syndrome: A very rare syndrome characterized mainly by a large head, short arms and clubfoot.
• Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
• Leishmaniasis: A rare infectious disease caused by any of a number of parasitic Leishmania species. Infection can cause any of three different manifestations: cutaneous leishmaniasis, mucosal leishmaniasis and visceral leishmaniasis.
• Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
• Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
• Limb deficiencies distal micrognathia: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
• Limb symptoms: Symptoms affecting the limbs
• Limb transversal defect - cardiac anomaly: A very rare syndrome characterized mainly by heart anomaly and leg and hand malformations involving missing bones.
• Limited cutaneous systemic sclerosis: A rare disorder that primarily affects the skin and blood vessels. It is characterized by calcified skin deposits (C), Raynaud syndrome (R), esophageal dysfunction (E), scleroderma of the fingers and toes(S) and telengiectasia - dilated blood vessels (T).
• Lipoma: Tumor of fat cells usually just under the skin
• Lisinopril - Teratogenic Agent: There is evidence to indicate that exposure to Lisinopril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Lissencephaly - immunodeficiency: A very rare syndrome characterized mainly by abnormal brain development and a poor immune system.
• Lithium poisoning: A type of heavy metal poisoning caused by excessive exposure to lithium.
• Liver symptoms: Symptoms affecting the liver
• Lopes-Marques de Faria syndrome: A very rare syndrome characterized mainly by decreased hair and mental retardation.
• Lujan-Fryns syndrome: A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome).
• Lumbar malsegmentation - short stature: A very rare syndrome characterized mainly by short stature and abnormal segmentation of the vertebrae in the abdominal segment of the spine.
• Lupus: Autoimmune disease with numerous effects on various organs and linings.
• Lymphadenitis: Inflammation that occurs in the lymph nodes
• Lymphatic Filariasis: Parasitic worm infection of the lympatic system
• Lymphedema, microcephaly and chorioretinopathy syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• Lymphoedema - Microcephaly - Chorioretinopathy Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• Lymphoedema - Microcephaly - chorioretinopathy: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• Lymphoid interstitial pneumonia: A relatively rare form of lung disease characterized by the buildup of lymphocytes (a type of white blood cell) in the air spaces or alveoli of the lungs. The condition can affect children or adults and is frequently associated with conditions such as HIV and autoimmune conditions such as rheumatoid arthritis and Hashimoto's thyroiditis. Symptoms may develop gradually over a period of months or even years in some cases.
• Lymphoma: Any neoplastic disorder that occurs in lymphoid tissue
• MLCRD Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• MacDermot-Winter syndrome: A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella).
• Machado-Joseph Disease: Rare genetic muscle disease causing muscle weakness.
• Macrocephaly pigmentation large hands feet: An extremely rare condition characterized mainly by the association of an enlarged head, pigmentation anomalies and large hands and feet.
• Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations: A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems.
• Madelung deformity: The abnormal growth of the end of the forearm bone (radius) which results in wrist pain and deformity. The severity of the disorder is variable with only severe cases requiring surgical intervention.
• Male Breast Cancer: Cancer of the breast in males.
• Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
• Marden-Walker-like syndrome: A very rare syndrome characterized mainly by long, thin fingers, contractures from birth and narrow eye slits.
• Marfan Syndrome type 2: A very rare syndrome characterized by some of the skeletal and heart blood vessel abnormalities seen in Marfan syndrome but there are no eye abnormalities. The genetic cause of the two types is different.
• Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
• Marfanoid hypermobility: An inherited connective tissue disorder with certain characteristics of Marfan and Ehlers-Danlos syndromes. Ehlers-Danlos syndrome is characterized by hyperextensible skin and loose joints and Marfan syndrome is characterized by symptoms such as tall, slender build, ear anomalies and hand contractures.
• Marie-Bamberg syndrome: A rare condition characterized by clubbing of fingers and toes, excessive sweating and development of fibrous tissue around the ends of bones. The condition is a form of hypertrophic osteoarthropathy that occurs secondary to other conditions such as cardiopulmonary disease and certain cancers.
• Marine turtle poisoning: Marine turtles are found and eaten in the rivers and coastal waters of Southeast Asia. It is believed that sometimes these turtles become poisonous when the eat toxic algae which occur at certain times of the year. Symptoms vary in nature and severity amongst patients - obviously the more that is eaten, the more severe the symptoms are.
• Marine turtle poisoning - Green Sea Turtle: Green Sea turtles are found and eaten in the rivers and coastal waters of Southeast Asia. It is believed that sometimes these turtles become poisonous when the eat toxic algae which occur at certain times of the year. Symptoms vary in nature and severity amongst patients - obviously the more that is eaten, the more severe the symptoms are.
• Marine turtle poisoning - Hawksbill Turtle: Hawksbill turtles are found and eaten in the rivers and coastal waters of Southeast Asia. It is believed that sometimes these turtles become poisonous when the eat toxic algae which occur at certain times of the year. Symptoms vary in nature and severity amongst patients - obviously the more that is eaten, the more severe the symptoms are.
• Marine turtle poisoning - Leatherback Turtle: Leatherback turtles are found and eaten in the rivers and coastal waters of Southeast Asia. It is believed that sometimes these turtles become poisonous when the eat toxic algae which occur at certain times of the year. Symptoms vary in nature and severity amongst patients - obviously the more that is eaten, the more severe the symptoms are.
• Marine turtle poisoning - Loggerhead Turtle: Loggerhead turtles are found and eaten in the rivers and coastal waters of Southeast Asia. It is believed that sometimes these turtles become poisonous when the eat toxic algae which occur at certain times of the year. Symptoms vary in nature and severity amongst patients - obviously the more that is eaten, the more severe the symptoms are.
• Marine turtle poisoning - Soft-shelled Turtle: Soft-shelled turtles are found and eaten in the rivers and coastal waters of Southeast Asia. It is believed that sometimes these turtles become poisonous when the eat toxic algae which occur at certain times of the year. Symptoms vary in nature and severity amongst patients - obviously the more that is eaten, the more severe the symptoms are.
• Maroteaux-Fonfria syndrome: A rare congenital disorder characterized by extra little fingers and extra big toes as well as the normal features associated with Apert syndrome.
• McCune-Albright Syndrome: A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material.
• McGillivray syndrome: A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia.
• McKusick-Kaufman syndrome: A rare genetic disorder characterized by hydrometrocolpos (fluid buildup in vagina and uterus), extra fingers and congenital heart defects.
• Meckel syndrome type 2: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes.
• Meckel syndrome type 3: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 3 differs from the other types in the location of the genetic defect and by the fact that meningoencephaloceles and extra fingers tend to occur less frequently.
• Meckel syndrome, type 5: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 5 is caused by a defect in the RPGRIP1L gene on chromosome 16q12.2.
• Megalencephaly - cutis marmorata telangiectatica congenita: A very rare syndrome characterized mainly by an enlarged brain, neurological abnormalities and a blood vessel abnormality that gives the skin a marbled appearance.
• Megalocornea mental retardation syndrome: A very rare genetic disorder characterized by reduced muscle tone from birth, mental retardation to varying degrees and eye abnormalities. The type and severity of symptoms is variable
• Meleda Disease: A very rare inherited skin disorder primarily involving dry thick skin patches that develop on the palms of hands and soles of feet. The type and severity of symptoms is variable.
• Meningococcal disease: Dangerous bacterial infection causing meningitis or bacteremia.
• Mental Retardation - Pterygia - Shortness - Distinctive Facial Appearance: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Mental mixed retardation - deafness - clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental mixed retardation deafnes clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental retardation - blepharophimosis - obesity - web neck: A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.
• Mental retardation - myopathy - short stature - endocrine defect: A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
• Mental retardation - short broad thumbs: A very rare syndrome characterized mainly by mental retardation and short, broad thumbs.
• Mental retardation - short stature - absent phalanges: A very rare, recessively inherited syndrome characterized mainly by mental retardation, short stature and missing finger bones.
• Mental retardation - short stature - cleft palate - unusual facies: A very rare syndrome characterized mainly by short stature, mental retardation, cleft palate and facial anomalies.
• Mental retardation - short stature - hand contractures - genital anomalies: A very rare syndrome characterized mainly by mental retardation, short stature, hand contractures and genital abnormalities.
• Mental retardation - short stature - heart and skeletal anomalies: A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies.
• Mental retardation - spasticity - ectrodactyly: A very rare syndrome characterized mainly by mental retardation, spasticity and a cleft hand. In the reported case, the parents came from the same bloodline.
• Mental retardation - unusual facies - talipes - hand anomalies: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities.
• Mental retardation X-linked dysmorphism: A very rare syndrome characterized mainly by mental retardation, partially dislocated knees and teeth and facial abnormalities.
• Mental retardation athetosis microphthalmia: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
• Mental retardation, Mietens-Weber type: A very rare genetic condition characterized by mental retardation, corneal opacity, nystagmus, elbow contractures and dwarfism.
• Mental retardation, X-linked - acromegaly - hyperactivity: A rare syndrome characterized mainly by mental retardation, hyperactivity and enlarged hands, feet and testes.
• Mental retardation, X-linked, 45: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the zinc finger protein-81 gene on chromosome Xp22.1-p11.
• Mental retardation, X-linked, 91: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the ZDHHC15 gene on chromosome Xq13.3.
• Mental retardation, X-linked, Armfield type: A rare disorder characterized by mental retardation, seizures, short stature, small hands and small feet. The disorder is X-linked and hence only males exhibit the symptoms. The genetic defect occurs on chromosome Xq28.
• Mental retardation, X-linked, Vitale type: A rare disorder characterized by mental retardation and facial and skeletal anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The genetic defect occurs on chromosome Xq24.
• Mental retardation-polydactyly-uncombable hair: A very rare syndrome characterized mainly by mental retardation, extra fingers and uncombable hair.
• Mephenytoin - Teratogenic Agent: There is evidence to indicate that exposure to Mephenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mesomelia radial hypoplasia bifid thumb unusual facies: A rare syndrome characterized mainly by skeletal abnormalities, dwarfism and hair, nail, skin and teeth abnormalities.
• Mesomelic dysplasia, Savarirayan type: A rare syndrome characterized mainly by limb and pelvic bone abnormalities which results in short stature. The shin bone is underdeveloped and the calf bone is absent.
• Mesothelioma, adult malignant: A rare type of malignant cancer that occurs in the pleura (chest lining) or peritoneum (abdominal lining). The cancer develops in people who have inhaled asbestos fibres. Symptoms tend to occur many years or even decades after the exposure.
• Mesothelioma, adult malignant - pleural: A rare type of malignant cancer that occurs in the pleura (chest lining). The cancer develops in people who have inhaled asbestos fibers. Symptoms tend to occur many years or even decades after the exposure.
• Metaphyseal dysostosis mental retardation conductive deafness: A rare, recessively inherited disorder characterized by mental retardation, deafness and skeletal abnormalities.
• Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly: A very rare syndrome characterized mainly by short fingers, underdeveloped upper jaw and bone abnormalities involving the cone-shaped portion near the end of the bones where growth occurs.
• Metaphyseal dysplasia Pyle type: A rare genetic disorder characterized by bone deformities involving the limbs, skull and other parts of the skeleton.
• Metatrophic dysplasia: A very rare form of dwarfism involving short limbs and a long trunk. Less than 100 cases of the condition have been reported.
• Methamphetamine - Teratogenic Agent: There is evidence to indicate that exposure to Methamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Methylmalonicacidemia with homocystinuria, cbl D: An inherited organic acid disorder where an enzyme deficiency (cblD) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects.
• Metoclopramide - Teratogenic Agent: There is evidence to indicate that exposure to Metoclopramide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Microbrachycephaly - ptosis - cleft lip: A very rare syndrome characterized mainly by a small, short head, droopy eyelids and a cleft lip.
• Microcephalic osteodysplastic primordial dwarfism types 1 and 3: Microcephalic osteodysplastic primordial dwarfism types 1 and 3 were originally regarded as separate conditions but it was recently concluded that they were different expressions of the same condition. The main differences between the two forms is a difference in the radiological bone anomalies. The condition is characterized mainly by bone abnormalities, short stature and a small head.
• Microcephalic osteodysplastic primordial dwarfism, type 2: A very rare syndrome characterized mainly by
• Microcephalic primordial dwarfism, Toriello type: A very rare syndrome characterized mainly by dwarfism, mental retardation and other anomalies.
• Microcephaly - lymphoedema - Chorioretinopathy Dysplasia Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• Microcephaly - lymphoedema - chorioretinopathy: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
• Microcephaly - mesobrachyphalangy - tracheoesophageal fistula syndrome: A very rare syndrome characterized by an abnormally small head, short fingers and an abnormal opening between the trachea and esophagus.
• Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
• Microdeletion 3q29: A rare chromosomal disorder where a small portion of chromosome 3 is missing. The main features of the syndrome are mental retardation and slightly unusual facial appearance.
• Microlissencephaly - micromelia: A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death.
• Micromelic dwarfism, Fryns type: A very rare syndrome characterized mainly by short-limbed dwarfism.
• Microphthalmia - camptodactyly - mental retardation: A very rare disorder characterized by the association of small eyes, mental retardation and permanently flexed fingers.
• Migraine: Severe complex headaches that occur periodically
• Mikaelian syndrome: A rare disorder characterized mainly by permanently flexed fingers, deafness and hair and teeth abnormalities.
• Minoxidil (topical) - Teratogenic Agent: There is evidence to indicate that exposure to Minoxidil (topical) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Misoprostol - Teratogenic Agent: There is evidence to indicate that exposure to Misoprostol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Mitochondrial Parkinson's disease: A form of Parkinson's disease that seems to be linked to mitochondrial defects - mitochondria are the energy-producing components of body cells. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Mobius syndrome: Type of facial paralysis.
• Moebius Syndrome: Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
• Mohr syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
• Monomelic Amyotrophy: Rare motor neuron disease with good prognosis.
• Mononen-Karnes-Senac syndrome: A very rare syndrome characterized mainly by short fingers and other skeletal abnormalities involving the limbs. Males are affected to a greater degree than females.
• Mononucleosis: Common infectious virus.
• Montefiore syndrome: A very rare syndrome characterized mainly by skull, facial, heart and digital abnormalities.
• Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate - type A, ? galactosidase - type B) needed to break it down. The symptoms are variable with type A and B being clinically indistinguishable.
• Morquio syndrome, type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.
• Morse-Rawnsley-Sargent syndrome: A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement.
• Mousa-Al Din-Al Nassar syndrome: A very rare syndrome characterized mainly by ataxia, spasticity and eye anomalies.
• Movement disorders: A disorder which affects ones ability to control their movements
• Mulibrey Nanism syndrome: A very rare inherited malformation characterized by very small stature (dwarfism), pericardial constriction and yellow dots in fundus of the eye.
• Mullerian derivatives - lymphangiectasia - polydactyly: A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia.
• Multicentric osteolysis - nodulosis - arthropathy: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Multifocal motor neuropathy: Disorder of progressive muscle weakness.
• Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
• Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
• Multiple synostoses syndrome 2: A rare disorder characterized by multiple fusions involving various bones in the body such as the fingers, toes and elbow.
• Multiple synostosis syndrome: A rare genetic disorder characterized by multiple bone fusions involving the face, limbs and middle ear.
• Muscular dystrophy, Duchenne and Becker type: An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed in males but females can be carriers.
• Muscular phosphorylase kinase deficiency: A very rare genetic defect which affects muscles and causes rapid fatigue on exertion and muscle cramping and weakness.
• Musculoskeletal chronic fatigue syndrome: Musculoskeletal chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. Musculoskeletal chronic fatigue syndrome tends to be dominated by musculoskeletal symptoms.
• Myelitis: Spinal cord inflammation.
• N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
• Nablus mask-like facial syndrome: A rare disorder characterized by an unusual mask-like facial appearance.
• Naguib syndrome: A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers.
• Nail Ridges: Linear elevations that may be either horizontal or vertical on the fingernails or toenails.
• Nail abnormalities: abnormalities of the nail may be missed if the clinician is not aware of the classic patterns that are seen so infrequently
• Nail abnormality: An abnormality of the finger and/or toe nails.
• Nail symptoms: Symptoms affecting the fingernails or toenails
• Nakajo syndrome: A very rare syndrome characterized mainly by
• Naked brimcap poisoning: Naked brimcap is a brown mushroom which becomes slimy when wet and is covered in thin hairs. The mushroom is often found growing in the wild in the US. This mushroom is poisonous and can lead to death if sufficient quantities are eaten. They are considered less toxic if cooked. This mushroom is unusual in that some people are able to eat them if they are cooked for a long time without any ill effect and can then develop a condition called immune hemolysis (where the body's immune system attacks it's own red blood cells).
• Narrow oral fissure - short stature - cone-shaped epiphyses: A very rare syndrome characterized mainly by narrow mouth opening, short stature and abnormal bone development.
• Nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia and severe mental retardation: A rare syndrome characterized sparse hair, underdeveloped nose and genitals, severe mental retardation and truncal obesity.
• Nemalin myopathy, late onset type: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemalin rods in the muscle tissue which affects its function. The muscle weakness may be severe but is generally not a progressive condition. The main muscles affected are the limbs, neck and face. The legs are generally more affected in the late onset type.
• Nephronophthisis familial, adult - spastic quadriparesis: A very rare syndrome characterized mainly by progressive kidney destruction and spasticity and weakness of arms and legs.
• Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
• Nephrotic syndrome: A condition involving excess loss of protein in the urine, reduced albumin levels in the blood and swelling.
• Nerve sheath neoplasm: Tumors that develop from the protective sheath surrounding nerves. There are two types of nerve sheath tumors: schwannomas and neurofibromas. They most often occur around the spinal cord. Symptoms are determined by the size and exact location of the tumor.
• Nerve symptoms: Symptoms affecting the nerves
• Neurodermatitis: Lichen simplex chronicus refers to thickened itchy skin that results from persistently rubbing or scratching an area of skin.
• Neurofaciodigitorenal syndrome: A very rare syndrome characterized mainly by
• Neurofibromatosis syndrome: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many non-cancerous nerve and skin tumors some of which may eventually become malignant.
• Neuropathy - ataxia - retinitis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Neuropathy ataxia and retinis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Neuropathy, distal hereditary motor, Jerash type: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs without any sensory impairment.
• Neuropathy, distal hereditary motor, type VIIA: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs and vocal cord paralysis. There is no sensory impairment.
• Neurosyphilis: Syphilis affecting the nervous system.
• Neurotoxic shellfish poisoning: Rare food poisoning from eating contaminated shellfish
• Neurotoxicity syndromes: Altered nervous system functioning caused by exposure to certain chemicals (manmade or natural) that affect the nervous system - essentially it is the poisoning of the nervous system. Examples of toxic compounds that may cause neurotoxicity include lead, certain solvents and pesticides. Symptoms may occur immediately or gradually over a period of time.
• Nguyen syndrome: A rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies.
• Nicolaides-Baraitser syndrome: A very rare syndrome characterized mainly by short stature, reduced hair, short fingers, epilepsy and abnormal bone development.
• Night blindness - skeletal anomalies - unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
• Nodulosis-arthropathy-osteolysis syndrome: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Non-Hodgkin's lymphoma: A condition which is any neoplastic disorder of the lymphoid tissue
• Nonkeratan-sulfate-excreting Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. This disorder is distinguished form other similar conditions by the fact that no keratosulfate is excreted in the urine.
• OFD syndrome type IX: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger and retinal abnormalities.
• OSMED, Homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Obsessive-compulsive disorder: Behavioral disorder with obsessive thoughts and compulsive acts.
• Oculo cerebro acral syndrome: A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities.
• Oculo skeletal renal syndrome: A very rare syndrome characterized mainly by eye, skeletal and kidney problems.
• Oculo-osteo-cutaneous syndrome: A rare syndrome characterized mainly by eye, skeletal and skin abnormalities.
• Oculopalatocerebral syndrome: A rare inherited syndrome characterized mainly by short stature, small head, mental retardation, cleft palate and eye problems.
• Oculopalatoskeletal syndrome: A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
• Olecranon bursitis: Inflammation of the fluid-filled sac at the pointy end of the elbow. The inflammation can result from trauma to the elbow, infection or chronic injury which can result from frequently resting on the elbows.
• Oliver syndrome: An extremely rare condition characterized by extra fingers and/or toes and mental retardation.
• Olivopontocerebellar Atrophy: A group of diseases progressive degeneration occurs in a particular area of the brain (olivopontocerebellar area) which results in various neurological symptoms.
• Omodysplasia type 1: A very rare syndrome characterized mainly by extremely short stature due to short bones in the arms and legs.
• Onychodystrophy and anonychia with type B brachydactyly and ectrodactyly: A rare, dominantly inherited disorder characterized abnormal or absent nails, missing fingers, permanently flexed fingers and a broad, finger-like thumb.
• Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
• Opsismodysplasia: A rare disorder where abnormal bone development results in skeletal abnormalities such as short stature, short limbs and facial abnormalities.
• Opthalmo acromelic syndrome: A very rare syndrome characterized mainly by missing eyes and limb anomalies.
• Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
• Orofaciodigital syndrome type1: A rare genetic disorder characterized by variable malformations of the face, digits and inside the mouth. Type 1 is distinguished from the other types of this condition by the presence of polycystic kidneys and a X-linked dominant inheritance.
• Orofaciodigital syndrome, Shashi type: A rare genetic disorder involving oral, facial and digital abnormalities as well as the absence of the pituitary gland.
• Osteoarthritis: A form of degenerative arthritis due to chronic degeneration
• Osteoarthropathy of fingers, familial: A rare disorder where a disrupted blood supply to the finger bones which results in bone pain and destruction.
• Osteogenesis imperfecta, type 5: A rare genetic connective disuse disorder characterized by fragile bones, calcification of membranes between bones and hypertrophic calluses.
• Osteogenesis imperfecta, type VIII: A form of connective tissue disorder involving fragile bones. Type VIII is distinguished from the other types of osteogenesis imperfecta by white sclerae, severely reduced bone mineralization and abnormal metaphyses.
• Osteoglophonic dwarfism: A form of dwarfism characterized by premature fusion of skull bones, short limbs and digits, facial abnormalities and bone development anomalies.
• Osteolysis hereditary multicentric: A very rare skeletal disorder characterized by bone loss in the hand and foot bones (carpals and tarsals) as well as abnormalities involving the long bones and digits.
• Osteomyelitis: An infection that occurs in bone
• Osteoporosis: Bone mass loss (osteoporosis) as a symptom
• Osteoporosis - macrocephaly - blindness - joint hyperlaxity: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
• Osteoporosis - macrocephaly - mental retardation - blindness: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
• Osteoporosis, severe - shortened long bones - white sclerae: A rare, lethal syndrome characterized by severe osteoporosis, short limbs and white sclerae.
• Osteosclerosis - ichthyosis - premature ovarian failure: A very rare syndrome characterized mainly by increased bone density, scaly skin and premature menopause.
• Osteosclerosis with ichthyosis and premature ovarian failure: A very rare syndrome characterized mainly by increased bone density, scaly skin and premature menopause.
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-Palato-digital syndrome type 1: A rare genetic disorder characterized by deafness, cleft palate, broad fingers and toes and short nails.
• Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
• Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Oto-spondylo-megaepiphyseal dysplasia, homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Otopalatodigital Syndrome Type I and II: A rare genetic disorder characterized by ear, palate, skull, face, finger, toe and other skeletal abnormalities.
• Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
• PEHO-like syndrome: A rare birth disorder characterized by brain anomalies due to prenatal ischemia. Clinically it is the same as true PEHO syndrome but differs in the type of brain abnormality involved. True PEHO syndrome is inherited and tends to involve an underdeveloped cerebellum which is absent in PEHO-like syndrome.
• POEMS syndrome: A very rare disorder that has widespread effects on the body: P - polyneuropathy, O - organopathy, E - endocrinopathy, M - monoclonal gammopathy, S - skin changes.
• Pachydermoperiostosis: A rare genetic ectodermal disorder characterized by thick coarse skin and limb clubbing.
• Paget's extramammary disease: A rare cancer characterized by a chronic rash that resembles eczema and usually occurs on the genital and anal areas.
• Palant cleft palate syndrome: A rare genetic disorder characterized by a cleft palate, unusual facial features, mental retardation and limb abnormalities.
• Pallister Killian Mosaic Syndrome: Pallister Killian Mosaic Syndrome is a very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister Mosaic Syndrome Tetrasomy 12p: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister-Ulnar mammary syndrome: A rare genetic condition characterized by extra or missing digits, breast and dental abnormalities.
• Palm bruise: A haematoma that occurs on the palm of the hand
• Palm burning sensation: A burning sensation on the palm of the hand
• Palm coldness: A cold sensation occurring on the palm of the hand
• Palm itch: A sensation thatcauses a desire to scratch the skin of the palm
• Palm lump: A palpable lesion located anatomically on the palm of the hand
• Palm pain: A feeling of distress and agonycaused by the stimulation of pain nerve endings in the palm of the hand
• Palm paresthesia/ tingling: A loss of sensation located at or around the palm of the hand
• Palm rash: An eruption on the skin of the palm of the hand.
• Palm tingling/ paresthesias: A tingling and numbness located in the palm
• Paralytic shellfish poisoning: Rare food poisoning from eating contaminated shellfish
• Paraplegia - brachydactyly - cone-shaped epiphysis: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
• Parkinson disease 10 (PARK10): Type 10 Parkinson disease is linked to a genetic mutation on chromosome 1p32. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 11 (PARK11): Type 11 Parkinson disease is linked to a genetic mutation on chromosome 2q21.2. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 12 (PARK12): Type 12 Parkinson disease is linked to a genetic mutation on chromosome Xq21-q25. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 13 (PARK13): Type 13 Parkinson disease is linked to a genetic mutation on chromosome 2p12. This form of the condition tends to progress slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 2, autosomal recessive juvenile (PARK2): Type 2 Parkinson disease is juvenile form of the condition and is linked to a genetic mutation on chromosome 6q25.2-q27. The condition may be inherited in a recessive manner and symptoms tend to be milder following sleep. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 3, autosomal dominant Lewy body (PARK3): Type 3 Parkinson disease is linked to a genetic mutation on chromosome 2p13. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 4, autosomal dominant Lewy body (PARK4): Type 4 Parkinson disease is linked to a genetic mutation on chromosome 4q21. This form of the condition tends to start around the age of 45 years and progresses rapidly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 5 (PARK5): Type 5 Parkinson disease is linked to a genetic mutation on chromosome 4p14. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 6, autosomal recessive early-onset (PARK6): Type 6 Parkinson disease is an early-onset form of the condition and is linked to a genetic mutation on the PINK1 gene on chromosome 1p36. The condition may be inherited in a recessive manner and symptoms tend to fluctuate during the day. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 7, autosomal recessive early-onset (PARK7): Type 7 Parkinson disease is linked to a genetic mutation in the DJ1 gene on chromosome 1p36. This form of the condition tends to start before the age of 40 years and progresses slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 8 (PARK8): Type 8 Parkinson disease is linked to a genetic mutation on chromosome 1p32. This form of the condition tends to progress slowly. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease 9 (PARK9): Type 9 Parkinson disease is linked to a mutation in the ATP13A2 gene on chromosome 1p36. This condition progresses rapidly and usually starts during the second decade of life. Dementia, eye movement problems and wasting of the brain tissue occur in addition to the typical symptoms of Parkinson's disease. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson disease, familial, type 1 (PARK1): Type 1 familial Parkinson disease is linked to a genetic mutation on chromosome 4q21. Parkinson's disease is a chronic, progressive, degenerative brain disorder characterized by tremors, muscle rigidity and slowed movements.
• Parkinson's Disease: Degenerative brain condition characterised by tremor.
• Parsonage Turner syndrome: Inflammation of the nerves that carry signals from the spine to the shoulder, arm and hands.
• Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Patterson pseudoleprechaunism syndrome: A very rare disorder characterized by excessive pigmentation, looks skin, unusual face, several mental retardation and bone abnormalities.
• Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.
• Penicillamine, D - Teratogenic Agent: There is evidence to indicate that exposure to Penicillamine, D during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Pepcid - Teratogenic Agent: There is evidence to indicate that exposure to Pepcid (used to treat and prevent ulcers) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Periodic paralysis, potassium-sensitive, cardiodysrythmic type: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium. Periodic paralysis may start as early as infancy or during the second decade and is triggered by exercise, stress or prolonged periods of rest.
• Peripheral vascular disease: Disease of arteries supplying the legs or sometimes arms
• Pernicious anemia: A megaloblastic anaemia due to malabsorption of the vitamin B12
• Peutz-Jeghers Syndrome: A hereditary disorder involving the presence of numerous polyps in the lining of the small intestine and pigmentation around the lips, inside the mouth and on the palms and soles.
• Pfeiffer syndrome: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Pfeiffer-Hirschfelder-Rott syndrome: A very rare syndrome characterized by facial and kidney anomalies and a type of dwarfism where the farthest parts of the limbs suffer the greatest degree of shortness.
• Phenytoin - Teratogenic Agent: There is evidence to indicate that exposure to Phenytoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Phocomelia - contractures - absent thumb: A very rare syndrome characterized mainly by absent thumbs, contractures and missing arm and leg bones.
• Phocomelia ectrodactyly deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Piepkorn karp hickoc syndrome: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Pierre Robin syndrome - fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
• Pierre-Robin syndrome with fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
• Pinched Nerve: Nerve paralysis from nerve pressure or entrapment.
• Pituitary cancer, childhood: Cancer (malignant) of the pituitary gland in children. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Pituitary tumors, adult: A benign or cancer tumor that develops in the tissue of the pituitary gland in adults. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Plague: Any epidemic disease with a high death rate.
• Plasmalogenes synthesis deficiency isolated: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (peroxisomal dihydroxyacetonephosphate acyl transferase).
• Plasmalogens synthesis deficiency isolated: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (peroxisomal dihydroxyacetonephosphate acyl transferase).
• Platyspondylic lethal skeletal dysplasia, Torrance type: A very rare inherited condition involving severe bone growth problems and often resulting in death before or soon after birth.
• Pointer syndrome: A rare syndrome characterized mainly by skeletal abnormalities, permanently flexed fingers, facial anomalies and feeding problems.
• Poland Syndrome: A rare genetic disorder characterized by hand syndactyly and abnormality of one chest muscle.
• Polyarteritis nodosa: A serious blood vessel disease where small and medium-sized arteries become swollen and damaged and are unable to adequately supply oxygenated blood to various tissues in the body. The disease can occur in a mild form or a serious, rapidly fatal form.
• Polydactyly: More than the normal number of fingers or toes.
• Polydactyly cleft lip palate psychomotor retardation: A very rare syndrome described in a small inbred group of families and characterized by bifid toes, extra big fingers, cleft lip or palate and psychomotor retardation. There were various other symptoms that were variably present.
• Polydactyly postaxial dental and vertebral: A very rare syndrome characterized mainly by extra fingers and dental and vertebral abnormalities.
• Polydactyly visceral anomalies cleft lip palate: A rare syndrome characterized mainly by the association of extra digits, cleft lip and/or palate and visceral anomalies. Various other abnormalities may also be present.
• Polydactyly, postaxial - dental and vertebral anomalies: A very rare syndrome characterized mainly by extra fingers and dental and vertebral abnormalities.
• Polymyalgia rheumatica: A condition characterized by muscle pain and stiffness, fatigue and fever. It is often associated with giant-cell arteritis which is a related but more serious condition.
• Polyneuritis: Widespared inflammation of nerves
• Polyneuropathy - Ophthalmoplegia - Leukoencehalopathy - Intestinal Pseudo-Obstruction: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
• Polyneuropathy - mental retardation - acromicria - premature menopause: A very rare syndrome characterized mainly by premature menopause, sensory impairment, mental retardation and small, delicate facial bones.
• Polysyndactyly - trigonocephaly - agenesis of corpus callosum: A very rare syndrome characterized mainly by webbed fingers, extra fingers, unusual skull shape and abnormal brain development.
• Polysyndactyly overgrowth syndrome: A very rare syndrome reported in one infant and characterized by the association of multiple webbed digits with an overly large body size.
• Polysyndactyly type Haas: A malformation where all the fingers are webbed and there is an extra digit. The webbing did not involve any bone fusion. The feet may have variable degrees of webbing and an extra toe may be present.
• Poor blood supply to arms: The occurrence of poor blood supply to arms
• Porphyria, Ala-D: A very rare inherited disorder where involving a lack of the enzyme delta-aminolevulinic acid dehydratase.
• Porphyria, hereditary coproporphyria: An inherited disorder that affects the nervous system and sometimes the skin. It occurs when a metabolic disorder results in excessive production of coproporphyrins which accumulate in body tissues and is excreted in large amounts.
• Powell-Venencie-Gordon syndrome: A very rare syndrome characterized mainly by thickened skin on the palms and soles as well as spastic paralysis.
• Prader-Willi syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet.
• Pregnancy toxemia /hypertension: Preeclampsia is the development of high blood pressure, excess protein in the urine and swelling during pregnancy. Hypertension is a serious health condition due to the fact that it often causes no symptoms until it is severe. The blood pressure usually returns to normal after delivery.
• Primary biliary cirrhosis: Primary biliary cirrhosis is a chronic and progressive cholestatic disease of the liver.
• Primary hypothyroidism: Primary hypothyroidism is a condition in which a defect in the thyroid gland leads to reduced production of thyroid hormone.
• Primary pulmonary hypertension: Primary pulmonary hypertension refers to high blood pressure in the arteries that carry blood to the lungs for no apparent reason. Blood pressure in other parts of the body is normal or sometimes even low.
• Primary pulmonary hypertension - Dexfenfluramine-associated: Dexfenfluramine-associated primary pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs as a result of using a diet drug called Dexfenfluramine. Blood pressure in other parts of the body is normal or sometimes even low. Only certain people with a particular genetic anomaly will develop this condition when using the diet drug.
• Primary pulmonary hypertension - Fenfluramine-associated: Fenfluramine-associated primary pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs as a result of using a diet drug called Fenfluramine. Blood pressure in other parts of the body is normal or sometimes even low. Only certain people with a particular genetic anomaly will develop this condition when using the diet drug.
• Prinzmetal's variant angina: A rare disorder where the heart artery spasms which affects the blood flow to the heart and causes pain. The condition can occur with or without physical activity.
• Progeroid syndrome, neonatal: A rare congenital condition characterized by poor growth, aged facial appearance, and mental retardation. Death occurs usually by 6 years of age.
• Proteinuria: Excessive protein excreted in urine.
• Proteus Syndrome: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
• Proximal spinal muscular atrophy, proximal, Adult, autosomal recessive: A rare, progressive neuro-muscular disease that occurs in adults. Nerve cells in the spinal cord are impaired resulting in loss of voluntary muscle control in various parts of the body. The lack of use of the muscle results in atrophy or weakness. Progression and prognosis is difficult to determine as individuals are affected to varying degrees.
• Proximal spinal muscular atrophy, type 3: A rare inherited disorder where motor neuron degeneration causes progressive muscle weakness and atrophy. The proximal muscles tend to be more affected than the distal ones and the legs tend to be more affected than the arms.
• Proximal spinal muscular atrophy, type 4: A rare, progressive neuro-muscular disease that occurs in adults. Nerve cells in the spinal cord are impaired resulting in loss of voluntary muscle control in various parts of the body. The lack of use of the muscle results in atrophy or weakness. Progression and prognosis is difficult to determine as individuals are affected to varying degrees.
• Proximal spinal muscular atrophy, type IV: A rare, progressive neuro-muscular disease that occurs in adults. Nerve cells in the spinal cord are impaired resulting in loss of voluntary muscle control in various parts of the body. The lack of use of the muscle results in atrophy or weakness. Progression and prognosis is difficult to determine as individuals are affected to varying degrees.
• Pseudoadrenoleukodystrophy: A rare disorder where an enzyme deficiency (Acyl-CoA Oxidase) results in symptoms such as seizures, apnea, delayed psychomotor retardation and neurological deterioration.
• Pseudoaminopterin syndrome: A very rare condtion characterized by mental and physical retardation, skull abnormalities and skeletal defects. The symptoms observed are similar to those caused by aminopterin which was once used to induce abortions but in the pseudo form there is no evidence of exposure to aminopterin.
• Pseudopapilledema - blepharophimosis - hand anomalies: A very rare syndrome characterized mainly by malformations involving the hands, feet ears and face as well as deafness.
• Psoriasis: Chronic skin rash condition, usually red or silver and blistery.
• Pterygia - Mental retardation - Distinctive Craniofacial Features: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Ptosis strabismus diastasis: A rare genetic disorder characterized by drooping eyelids, strabismus and abdominal muscle defects.
• Pulmonary alveolar proteinosis, congenital: A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing.
• Pulmonary arterio-veinous aneurysm: A very rare disorder where there is an abnormal opening between a pulmonary artery and vein which can affect blood oxygenation.
• Pulmonary arteriovenous fistula: A rare genetic defect where one or more the arteries and veins in the lung are connected via an abnormal opening or fistula which affects the oxygenation level of body tissues.
• Pulmonary arteriovenous malformation: A rare malformation where there is an abnormal opening between a lung artery and a lung vein which causes some blood to pass through the lungs without being oxygenated.
• Pulmonary edema: A condition which is characterized by engorgement of the pulmonary vessels and transudation of fluid into the alveoli
• Pulmonary fibrosis /granuloma: A lung disease characterized by stiffening and inflammation of lung tissue.
• Pulmonary hypertension: The occurrence of hypertension the blood vessels of the lungs
• Pulmonary hypoxic hypertension: Pulmonary hypoxic hypertension is characterized by high blood pressure and low oxygen levels that result from constriction of the blood vessels leading to the lungs.
• Pulmonary surfactant protein B, deficiency of: A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing. The disease is called by a deficiency of a the lung surfactant protein B.
• Pulmonary thromboembolic hypertension: Pulmonary thromboembolic hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs due to a blood clot in one of these blood vessels. Blood pressure in other parts of the body is normal or sometimes even low.
• Pycnodysostosis: A rare inherited biochemical disorder involving an enzyme (cathepsin k) deficiency which impairs the processes needed to maintain healthy bones.
• Pyle disease: A rare genetic disorder characterized by numerous bone abnormalities as well as loss of vision and hearing.
• Pyridoxine deficiency: Deficiency of vitamin B6 which has many uses in the body.
• Quadriplegia: Paralysis of all four limbs and usually the entire trunk from the neck down; due to spinal cord damage at level of cervical spine (neck).
• Queensland tick typhus: Form of typhus from North-Australian ticks
• Quinapril - Teratogenic Agent: There is evidence to indicate that exposure to Quinapril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Radial Tunnel Syndrome: Compression or entrapment of the radial nerve which passes through the forearm. This nerve is involved in controlling various muscles in the hand and the wrist. The condition may be misdiagnosed as tennis elbow - the pain from tennis elbow is usually closer to the elbow than the pain in radial tunnel syndrome.
• Radiation-Induced Brachial Plexopathy: A nerve injury that occurs as a complication of radiation treatment to the upper chest area.
• Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
• Radio-ulnar synostosis type 2: A very rare syndrome characterized by dislocation of the head of the radius (forearm bone) as well as fusion of the two forearm bones (radius and ulna).
• Radius absent - anogenital anomalies: A very rare syndrome characterized mainly by an absent radius (forearm bone) and anal and genital anomalies.
• Ramipril - Teratogenic Agent: There is evidence to indicate that exposure to Ramipril during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Raynaud's phenomenon: A condition where the body extremities sweat and turn blue and cold. Exposure to cold, emotional stress and smoking may trigger the condition. Also known as acrocyanosis.
• Reardon-Hall-Slaney syndrome: A very rare syndrome characterized mainly by short limbs, cleft palate and permanently flexed fingers.
• Reflex sympathetic dystrophy syndrome: A condition characterized by pain and reduced range of motion in the shoulder and hand of the affected arm.
• Reiter’s syndrome: A form of reactive arthritis characterized by arthritis, urethritis, conjunctivitis and skin lesions.
• Renal dysplasia - limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
• Resistance to thyroid stimulating hormone: A very rare disorder where the body is unable to respond to thyroid stimulating hormone even though it is present in sufficient quantities. The problem lies in defective thyroid stimulating hormone receptors.
• Retention of tears - ectrodactyly - ectodermal dysplasia - strange hair, skin and teeth: A rare syndrome characterized by a hand deformity and hair, skin and teeth abnormalities.
• Retinopathy pigmentary mental retardation: A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation.
• Rett's syndrome: Autism-like behavioral syndrome in infant girls
• Reye's syndrome: is a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver
• Rheumatic fever: An inflammatory disorder that can occur as a complication of untreated streptococcal bacterial infection such as strep throat or scarlet fever. The condition may affect the brain, skin, heart and joints.
• Rheumatoid arthritis: An autoimmune inflammatory condition which primarily affects the joints
• Rheumatoid vasculitis: A rare disorder where sufferers of rheumatoid arthritis with joint inflammation develop inflammation of small and medium sized blood vessels. It tends to mostly affect the blood vessels in the skin. The symptoms are determined by which part of the body is affected.
• Rhizomelic chondrodysplasia punctata, type 2: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (glyceronephosphate O-Acyl transferase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 1q42.
• Rhizomelic dysplasia Patterson Lowry type: A very rare syndrome characterized mainly by short upper arm and thigh bones.
• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa: A very rare syndrome characterized by an eye disorder, scoliosis and other skeletal abnormalities.
• Rhizomelic syndrome: A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood.
• Rib symptoms: Symptoms affecting the ribs
• Richieri Costa Guion-Almeida syndrome: A very rare syndrome characterized mainly by mental retardation, short stature, cleft lip/palate and eye anomalies.
• Rigid mask-like face - deafness - polydactyly: A very rare syndrome characterized mainly by deafness, extra digits and a rigid, mask-like face.
• Roberts-SC Phocomelia: A rare genetic disorder characterized by limb deformities, midfacial defects and severe growth deficiency.
• Robinow syndrome, autosomal recessive: A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia.
• Robinow syndrome, recessive form: A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and underdeveloped genitals.
• Rocky Mountain spotted fever: A bacterial disease caused by Rickettsia rickettsii and transmitted by ticks. The condition causes fever and a characteristic rash and may be fatal in severe or untreated cases.
• Rosenberg-Lohr syndrome: A rare genetic disorder characterized mainly by thickening of the wrist bones and a part of the lower back bone (dorsum sellae).
• Roussy Levy hereditary areflexic dystasia: An inherited ataxia (incoordination) involving muscle wasting, kyphoscoliosis and absence of tendon reflexes.
• Roussy-Lévy hereditary areflexic dystasia: An inherited ataxia (incoordination) involving muscle wasting, kyphoscoliosis and absence of tendon reflexes.
• Rud Syndrome: A condition characterized by ichthyosis, epilepsy, short stature, hypogonadism and severe mental retardation.
• Ruzicka-Goerz-Anton syndrome: A rare genetic syndrome characterized by rough scaly skin, deafness, mental retardation and skeletal anomalies.
• Saal-Bulas syndrome: A very rare syndrome characterized mainly by lobster-like hands, diaphragmatic hernia and a brain abnormality.
• Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
• Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p15.3p21.3.
• Saethre-Chotzen syndrome, chromosome 7 p21.1p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p21.1p21.3.
• Saito-Kuba-Tsuruta syndrome: A very rare syndrome characterized by kidney abnormalities and an abnormal calf bone or forearm bone (ulna). Only a few cases of the syndrome have been reported.
• Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Sallis-Beighton syndrome: A rare inherited syndrome characterized mainly by hand and foot abnormalities.
• Sandrow syndrome: A disorder characterized mainly by hand and foot defects as well as nose abnormalities which affects the ability to breath.
• Say-Field-Coldwell syndrome: A very rare syndrome characterized mainly by fingerlike thumbs and a dislocated kneecap.
• Scabies: Mite infection of the skin common in institutions.
• Scalp - ear - nipple syndrome: A very rare syndrome characterized mainly by scalp, nipple and ear abnormalities.
• Scaphotrapeziotrapezoid arthrodesis: Fusion of bones (scaphoid, trapezium and trapezoid) in the wrist. The fusion is done as a surgical procedure that aims to alleviate pain and instability in the wrist.
• Scapulocostal syndrome: Pain in the back and or shoulder that may involve other parts of the arms or chest. The cause is unknown but may be a result of postural problems.
• Schaefer-Stein-Oshman syndrome: A rare disorder where excessive growth and abnormal hardening affects the head and facial bones.
• Schmitt-Gillenwater-Kelly syndrome: A very rare syndrome characterized mainly by fingerlike thumbs, short radial (forearm) bone and an abnormally placed urethral opening in males.
• Scholte syndrome: A very rare syndrome characterized mainly by premature balding, dislocated kneecap, hypogonadism and small hands and feet.
• Sclerocornea, Syndactyly, ambiguous genitalia: A very rare syndrome characterized mainly by hardening of the corneas, webbed fingers and ambiguous genitalia.
• Scleroderma: A rare, progressive connective tissue disorder involving thickening and hardening of the skin and connective tissue. There are a number of forms of scleroderma with some forms being systemic (involving internal organs).
• Scleroderma, diffuse: A rare autoimmune connective tissue disease where the body attacks parts of the body and causes scarring and thickness of the tissue. In the diffuse form the the disorder, large areas of skin as well as organs are involved. Death can occur.
• Scleroderma, systemic: A rare autoimmune connective tissue disease where the body attacks parts of the body and causes scarring and thickness of the tissue. In the systemic form, the skin and organs are involved.
• Sclerosing bone dysplasia - mental retardation: A rare disorder characterized by abnormal hardening (sclerosis) of the bone and mental retardation.
• Scott syndrome: A very rare inherited syndrome characterized by head and digital abnormalities as well as mental retardation.
• Seal finger syndrome: A type of finger infection that occurs in people involved with killing and skinning seals. The type of infection is unknown.
• Seckel syndrome: A rare condition characterized by fetal and postnatal growth retardation, mental retardation and characteristic facial features.
• Seckel-like syndrome, type Buebel: A rare syndrome characterized by dwarfism and other abnormalities characteristic of Seckel syndrome as well as hand and foot anomalies.
• Seckle syndrome: A rare genetic disorder characterized by short stature, microcephaly and a prominent nose.
• Secondary hypothyroidism: Secondary hypothyroidism is a condition in which the activity of the thyroid gland is decreased, due to failure of the pituitary gland or hypothalamus
• Secondary pulmonary hypertension: Secondary pulmonary hypertension refers to high blood pressure in the arteries that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition may be caused by such things as lung conditions (e.g. emphysema, chronic bronchitis), heart conditions (e.g. congestive heart failure, birth defects involving heart), AIDS or medications such as fenfluramine (a diet drug).
• Secondary syphilis: A condition which is characterized by fever, multiform skin eruptions, iritis, alopecia, mucous patches and severe pain in the head and joints
• Senile purpura: Bruising condition mostly in the elderly
• Septooptic dysplasia - digital anomalies: A very rare syndrome characterized mainly by finger and toe abnormalities as well as abnormal development of the optic nerve and pituitary gland. Antenatal exposure to sedatives may be a factor in the cause of the disorder.
• Severe achondroplasia with developmental delay and acanthosis nigricans: A very rare inherited disorder characterized by abnormal bone development and brain and skin abnormalities.
• Shaking hands: A condition which is characterized by shaking of the hands
• Shaky hands: A condition which is characterized by shaking of the hands
• Shell nail syndrome: A syndrome characterized by deterioration of the nail beds, clubbed fingers, inflammation around the bone and bronchiectasis.
• Short limb dwarf lethal, Mcalister Crane type: A very rare syndrome characterized mainly by short arms and legs and resulting in stillbirth or infant death.
• Short limbs - abnormal face - congenital heart disease: A very rare syndrome characterized by the association of short arms and legs, an abnormal facial appearance and congenital heart disease. Limb shortening tends to affects the arms more than the legs.
• Short rib - polydactyly syndrome: A very rare group of syndrome characterized mainly by short ribs and extra fingers. Often there are other associated abnormalities. The group of syndromes vary in severity and include Ellis Van Creveld's disease and Jeune's thoracic dystrophy as well as other disorders.
• Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.
• Short rib-polydactyly syndrome, Saldino-Noonan type: A rare genetic disorder characterized by short stature, bone formation abnormalities, heart defects and other deformities.
• Short rib-polydactyly syndrome, Verma-Naumoff type: A rare lethal syndrome characterized by abnormal skeleton formation resulting in extra digits, short ribs, short limbs and genital anomalies.
• Short ribs - craniosynostosis - polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Short stature - contractures - hypotonia: A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures.
• Short stature - craniofacial anomalies - genital hypoplasia: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Short stature - monodactylous - ectrodactyly - cleft palate: A very rare syndrome characterized mainly by short stature, missing fingers and a cleft palate.
• Short stature - talipes - natal teeth: A very rare syndrome characterized mainly by short stature, early tooth eruption, and a foot deformity (talipes).
• Short stature - valvular heart disease: A very rare syndrome characterized mainly by short stature and heart valve disease.
• Short stature cranial hyperostosis hepatomegaly diabetes: A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull.
• Short stature locking fingers: A rare syndrome characterized by short stature and episodes of locked finger joints.
• Short stature valvular heart disease characteristic facies: A rare condition characterized by disproportionately short legs, droopy eyelids and heart valve lesions.
• Short stature, cranial hyperostosis, hepatomegaly and diabetes: A very rare syndrome characterized mainly by enlarged liver, diabetes, short stature and a thickened skull.
• Shoulder and thorax deformity, congenital heart disease: A very rare syndrome characterized by shoulder and thorax abnormalities and congenital heart disease.
• Shoulder bursitis: A condition which is characterized by inflammation of the bursa of the shoulder
• Shoulder dislocation: Dislocation of the shoulder joint.
• Shoulder symptoms: Symptoms affecting the shoulder
• Shoulder tendinitis: A condition which is characterized by inflammation of the tendons of the shoulder
• Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
• Sickle cell anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
• Simpson-Golabi-Behmel syndrome, type 1 (SGBS1): A rare genetic disorder characterized by accelerated growth, a peculiar face and other defects.
• Simpson-Golabi-Behmel syndrome, type 2: A rare genetic disorder characterized by hydrops fetalis and various other severe abnormalities. The condition usually results in death within two months of birth.
• Singh-Williams-McAlister, syndrome: A rare syndrome characterized mainly by the resorption of certain bones (ankles, knees and wrists). Swelling an pain also occur in the affected bones.
• Sjogren's Syndrome: Autoimmune disease damaging the eye tear ducts and other glands.
• Skeletal dysplasia - mental retardation: A rare recessively inherited disorder characterized mainly by mental retardation, a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
• Skeletal dysplasia - orofacial anomalies: A very rare disorder characterized mainly by face, mouth and skeletal abnormalities.
• Sketetal dysplasia coarse facies mental retardation: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration.
• Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
• Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
• Spastic paraparesis: A rare disorder where parts of the body develop spasticity and weakness. Usually the limbs are involved. The disorder is usually an inherited condition.
• Spastic paraplegia 16, X-linked: A rare condition characterized by spasticity and weakness of the arms and legs, mental retardation, impaired vision and poor bowel and bladder control. In most cases, sufferers never gain the ability to walk.
• Spasticity - multiple exostoses: A very rare syndrome characterized by stiff legs and numerous bone outgrowths.
• Spherophakia brachymorphia syndrome: A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities.
• Spinal Muscular Atrophy type III: Type of SMA, a genetic motor neuron disease affecting nerves and muscles.
• Spinal bulbar motor neuropathy: A rare inherited disease that affects the nerves in the spine and in the bulbous (bulbar) part of the brain stem. The main signs are muscle weakness and wasting.
• Spinal intradural arachnoid cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord. The type and severity of symptoms is determined by the size and location of the cyst.
• Spinal muscular atrophy with respiratory distress 1: An inherited neuromuscular disease that causes progressive weakness in the arm and chest muscles leading to severe respiratory problems early in life. Sufferers are never able to sit independently and breathing problems progress rapidly with breathing assistance needed within the first five years.
• Spinal muscular atrophy, Adult form: A rare, progressive neuro-muscular disease that occurs in adults. Nerve cells in the spinal cord are impaired resulting in loss of voluntary muscle control in various parts of the body. The lack of use of the muscle results in atrophy or weakness. Progression and prognosis is difficult to determine as individuals are affected to varying degrees.
• Spinal muscular atrophy, Ryukyuan type: A recessively inherited disorder occurring in males from a Japanese inhabitants of Ryukyu Islands. The disorder is characterized by muscle wasting and weakness that affects the lower legs more than the arms.
• Spinocerebellar ataxia 12: A rare genetic disorder (chromosome 5q31-q33 defect) characterized by variable symptoms such as arm tremors, gait ataxia and dysarthria (speech disorder) with other.
• Spinocerebellar ataxia 14: A rare genetic disorder (chromosome 19q13.4qter defect) characterized by gait ataxia, tremors and dysarthria (speech disorder). The condition progresses slowly.
• Spinocerebellar ataxia 18: A rare genetic disorder (chromosome 7q22-31 defect) characterized by muscle atrophy and sensory loss. The severity of symptoms is variable. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 19: A rare genetic disorder (chromosome 1p21-q21 defect) characterized by mild cognitive impairment and myoclonus. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Spinocerebellar ataxia 27: A rare genetic disorder (chromosome FGF14; 13q34 defect) characterized by tremors, dyskinesia and psychiatric episodes. Gait ataxia and dysarthria (speech disorder) also occur and are symptoms common to all the spinocerebellar ataxia types.
• Split hand - split foot: A rare malformation where the middle digits and associated hand or foot bones are missing, giving the hand and foot a split appearance. One or more limbs may be affected and sometimes the remaining digits are webbed which can give them a "lobster-claw" like appearance.
• Split hand/foot malformation X-linked: A rare genetic condition characterized by missing or underdeveloped bones in the hands and feet giving them a split appearance. The deformity is inherited in a X-linked manner.
• Split hand/split foot malformation, autosomal recessive: A rare recessively inherited malformation involving missing or underdeveloped bones in the hands and feet giving them a split appearance.
• Split-hand deformity: A rare genetic disorder where fingers or parts of fingers are missing. It is usually associated with a cleft of the hand which gives the hand a claw-like appearance.
• Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
• Spondyloepimetaphyseal dysplasia with abnormal dentition: A rare skeletal disorder where the spine and long bones grow and develop abnormally. This particular type also involves tooth abnormalities.
• Spondyloepimetaphyseal dysplasia with joint laxity: A rare skeletal disorder where the spine and long bones grow and develop abnormally. Loose joints and severe curvature of the spine is also present. The condition is severe and death in the first couple of decades is common.
• Spondyloepimetaphyseal dysplasia with multiple dislocations: A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations.
• Spondyloepimetaphyseal dysplasia, X linked with mental deterioration: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration.
• Spondyloepimetaphyseal dysplasia, X-linked: A rare skeletal disorder where the spine and long bones grow and develop abnormally. The trunk and fingers are short.
• Spondyloepimetaphyseal dysplasia, micromelic: A rare skeletal disorder where the spine and long bones grow and develop abnormally. This particular type is characterized by short stature, short limbs and spinal abnormalities.
• Spondyloepiphyseal dysplasia - brachydactyly and distinctive speech: A rare disorder characterized by an unusual voice, characteristic facial appearance and various skeletal abnormalities such as short hands, feet and digits.
• Spondyloepiphyseal dysplasia tarda, Toledo type: A rare bone development disorder caused by a deficiency of chondroitin sulfate. The short stature tends to be moderate and an eye abnormality is also usually present.
• Spondyloepiphyseal dysplasia tarda, autosomal dominant: A rare genetic disorder where abnormal bone development primarily involves the spine and epiphyses (end of long bones where growth occurs).
• Spondylometaphyseal dysplasia with dentinogenesis imperfecta: A rare skeletal disorder involving abnormal bone development. The condition is characterized by abnormal growth of long bones, loose joints and tooth enamel abnormalities. The shortness in the arms and legs occurs mainly in the middle bones such as the forearm and lower leg bones.
• Spondylometaphyseal dysplasia, Algerian type: A severe, dominantly inherited skeletal disorder involving abnormal bone development. The condition is characterized by knock knees, curved spine, short stature and abnormal growth of long bones.
• Spondylometaphyseal dysplasia, Sedaghatian type: A very rare syndrome characterized by abnormal bone development with short arms and flattened vertebrae. Death usually occurs within days of birth.
• Spondylometaphyseal dysplasia, axial: A rare skeletal disorder involving abnormal bone development. The condition is characterized by flattened vertebrae, small rib cage, abnormal ribs and other bone abnormalities.
• Spondylometaphyseal dysplasia, east-African type: A rare, early-onset skeletal disorder involving abnormal bone development. The spine is mildly affected and the hands are spared but the growing ends of long bones are deformed (bracket-shaped) which affects bone growth.
• Spondyloperipheral dysplasia - short ulna: A rare inherited disorder characterized by a short forearm bone (ulna) and other skeletal anomalies such as short hands and feet.
• Spondylosis: Spinal degeneration of the discs or spinal joints
• Sporotrichosis: A fungal skin infection caused by the fungus Sporothrix schenckii. Usually only the skin is infected but bones, lungs and central nervous system can rarely be affected also. Transmission usually occurs through infection of a skin wound.
• Stevenson-Carey syndrome: A rare syndrome involving various congenital abnormalities and mental retardation.
• Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
• Stiff arm: Reduced mobility or movement of the arm
• Stiff elbow: Stiffness of the elbow joint
• Stoll Levy Francort Syndrome: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Stoll-Levy-Fancfort syndrome: A rare syndrome characterized mainly by deafness, missing fingers, abnormal heart rhythm and missing bones in limbs.
• Stratton-Parker syndrome: A very rare syndrome characterized by short stature, heart positioned on the wrong side of the chest (dextrocardia) and a bone development anomaly.
• Stroke symptoms: Brain-related symptoms of bleeding or blockage.
• Stuve-Wiedemann dysplasia: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Stuve-Wiedemann syndrome: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Sugarman II syndrome: A rare genetic disorder characterized by short fingers and toes due to shortening of the finger and toe bones closest to the palm and sole. Duplication of the big toe is also present
• Superior vena cava syndrome: A condition caused by compression or obstruction to the normal circulation of the superior vena cava which carries deoxygenated blood from the body tissues back to the heart.
• Swollen finger: Swelling of a finger
• Symphalangism - brachydactyly - craniosynostosis: A very rare syndrome characterized mainly by the association of short digits, premature fusion of skull bones and fused joints in digits.
• Symphalangism distal: A finger deformity where one or more end joints of fingers or toes are fused. The index finger is the most common digit involved.
• Symphalangism with multiple anomalies of hands and feet: A rare syndrome characterized mainly by fused finger and toe joints as well as other hand and foot anomalies.
• Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch: A very rare syndrome characterized mainly by small teeth, underdeveloped wrist bones and fusion of the joints in the ends of the fingers.
• Syndactyly: Fusion of the fingers in the hand.
• Syndactyly - cataract - mental retardation: A very rare syndrome characterized mainly by webbed fingers and toes, cataract and mental retardation.
• Syndactyly - preaxial polydactyly - sternal deformity: A rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall.
• Syndactyly type 1 - microcephaly - mental retardation: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
• Syndactyly type 5: A birth defect involving webbed fingers and toes - usually between 3rd and 4th fingers and 2nd and 3rd toes. There is also fusion of some of the long bones in the hand (metacarpals) and feet (metatarsals).
• Syndactyly, type 2: A birth defect involving webbing between the 3rd and 4th fingers as well as duplication of all or some of the fourth digit within the webbed tissue. The foot may also be involved with webbing between the 4th and 5th toe with an extra 5th toe in the webbed tissue.
• Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
• Syringomyelia: Spinal cord cysts
• Syringomyelia, cervical lesion: A slowly-progressing neurological disorder characterized by a fulid-filled cavity in the spinal cord in the neck region.
• TAR syndrome: A rare genetic disorder characterized by the absence of radial bones of both forearms and thrombocytopenia.
• Tabatznik syndrome: A very rare syndrome involving heart and hand abnormalities.
• Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals: A rare condition characterized mainly by the loss of bone in the knee, ankle and wrist joints.
• Tardive dyskinesia: The toxic neurological side effects of neuroleptic drugs that have been used long term.
• Tarsal carpal coalition syndrome: A very rare syndrome characterized mainly by fused ankle and wrist bones.
• Taussig Bing syndrome: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. In the type III the hole is located just below the pulmonary artery.
• Tegison - Teratogenic Agent: There is evidence to indicate that exposure to Tegison (a drug used to treat psoriasis) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Tel-Hashomer camptodactyly syndrome: A very rare syndrome characterized mainly by finger flexion, facial anomalies, short stature and muscle problems.
• Temtamy preaxial brachydactyly syndrome: A rare syndrome characterized by mental retardation, deafness, retarded growth, finger abnormalities and various other anomalies.
• Temtamy syndrome: A rare disorder characterized by a brain abnormality, unusual facial appearance and eye coloboma.
• Tennis elbow: Lateral epicondylitis, also known as tennis elbow, is characterized by pain in the back side of the elbow and forearm, along the thumb side when the arm is alongside the body with the thumb turned away.
• Tertiary hypothyroidism: Tertiary hypothyroidism results from a malfunction of the hypothalamus, the part of the brain that controls the endocrine system.
• Tetany: Involuntary cramps of the muscles caused by low blood calcium levels.
• Thick nails: hardening of the nail plate
• Thickened nails: A condition which is characterized by thickened nails
• Thiopropazate - Teratogenic Agent: There is evidence to indicate that exposure to Thiopropazate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Thompson-Baraitser syndrome: A very rare syndrome characterized mainly by liver fibrosis, kidney cysts and mental retardation.
• Thoracic outlet syndrome: Pinched shoulder/arm nerve.
• Thoracic outlet syndrome TOS: A rare disorder involving compression or damage to the nerves and blood vessels that go from the neck to the arms or armpit. It may occur as a birth defect or through some sort of traumato the shoulder area. It can causes symptoms such as arm pain and weakness and can occur on one or both sides depending on the nature of the cause.
• Thumb absence - hypoplastic halluces: A rare syndrome characterized mainly by missing thumbs and underdeveloped big toes.
• Thumb bruise: A haematoma that occurs on the thumb
• Thumb burning sensation: A burning sensation on the thumb
• Thumb coldness: A cold sensation occurring on the thumb
• Thumb deformity, alopecia, pigmentation anomaly: A very rare syndrome characterized mainly by a deformed thumb, lack of hair and abnormal pigmentation.
• Thumb itch: A sensation thatcauses a desire to scratch the skin of the thumb
• Thumb pain: A feeling of distress and agonycaused by the stimulation of pain nerve endings in the thumb
• Thumb paresthesia/ tingling: A loss of sensation located at or around the thumb
• Thumb rash: An eruption on the skin of the thumb.
• Thumb tingling/ paresthesias: A tingling and numbness located in the thumb
• Thyroid agenesis: A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth.
• Thyroid disorders: Any disorder of the thyroid gland.
• Tibial aplasia - ectrodactyly - hydrocephalus: A rare syndrome characterized mainly by a build up of fluid inside the skull (hydrocephaly), shin bone abnormalities and a split hand deformity.
• Timothy syndrome: A rare syndrome characterized by webbed fingers and a heart defect. Most affected individuals die during early childhood or infancy.
• Tingling fingers: Finger tingling, prickling or pins-and-needles sensations
• Tingling hands: The occurrence of the sensation of tingling which occurs in the hands
• Tingling in both hands: Abnormal sensation of tingling ("pins and needles") occurring in both hands
• Tingling in one hand: Abnormal sensation of tingling ("pins and needles") occurring in one hand
• Tizzard syndrome: A syndrome characterized by large, short hands and feet and small corneas.
• Todd paralysis: Paralysis of an arm or leg on one side of the body that occurs after an epileptic attack. The paralysis can last from minutes to days.
• Toenail Rash: Rash occurring on the toenail.
• Toenail bruise: A haematoma that occurs on the toenail
• Toenail pain: Pain affecting a toenail
• Toenail symptoms: Symptoms of the nails on the toes
• Tollner-Horst-Manzke syndrome: A very rare syndrome characterized by extra fingers, cleft lip, cleft palate and abdominal organ anomalies.
• Tooth and nail syndrome: A genetic condition which affects the teeth and nails
• Tourette Syndrome: A neurological disorder involving vocal and movement tics where where uncontrollable movements or verbal utterances are made.
• Townes-Brocks Syndrome: A rare condition characterized by anal, hand, foot and ear abnormalities.
• Transient ischemic attack: temporary disturbance of blood supply to a restricted area of the brain, resulting in brief neurologic dysfunction that persists, by definition, for less than 24 hours.
• Transverse myelitis: Inflammation of the spinal cord which results in various neurological and muscle symptoms. The inflammation can occur for no obvious reason or may result from a virus, bacterial infection, autoimmune disease or vaccination. The type and severity of symptoms is determined by the location and degree of inflammation.
• Tremor: The occurrence of involuntary trembling
• Treponema infection: A rare infectious diseases which is transmitted through sexual contact and caused by Treponema pallidum (a spirochete bacterium). Untreated cases can result in severe complications and even death.
• Tricho odonto onycho dermal syndrome: A very rare syndrome characterized by hair, tooth, nail and skin abnormalities.
• Trichorhinophalangeal syndrome type 1: A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses.
• Trigonocephaly - broad thumbs: A rare syndrome characterized mainly by broad thumbs and a prominent triangular shaped forehead.
• Triphalangeal thumb - polysyndactyly syndrome: A very rare syndrome characterized mainly by webbed fingers and a thumb that has three bones instead of the normal two.
• Triploid syndrome: A complete extra set of chromosomes.
• Trisomy 10 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 10 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 13 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 13 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect. There appears to be a direct correlation between the number of cells in the body containing the chromosomal defect and severity of symptoms and survival.
• Trisomy 21 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 1 in some of the body's cells. The presence of trisomy 20 in all cells causes Down's syndrome and thus the presence in fewer body cells results in conditions that are similar to Down's but tend to be milder.
• Trisomy 22 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 22 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 4 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 4 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 6: A rare chromosomal disorder involving the duplication of chromosome 6 which results in variable symptoms including mental retardation, retarded growth, facial anomalies and various other abnormalities. Full Trisomy 6 is results in spontaneous abortion whereas various degrees of Trisomy 6q can result in syndromes of variable severity depending on the size of the duplication.
• Trisomy 6 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 6 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 8 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trueb-Burg-Bottani syndrome: A very rare genetic syndrome characterized by hair, teeth and nail abnormalities as well as webbed fingers.
• Tsukuhara syndrome: A very rare syndrome characterized mainly by a curved spine, premature fusion of skull bones and a small head.
• Tukel syndrome: A rare syndrome involving restricted eye movement and droopy eyelid and hand deformities affecting primarily the right eye and right hand.
• Tumoral calcinosis: A rare disorder characterized by calcified nodules in soft tissue around joints. Abnormal mineral metabolism results in calcium being deposited in the soft tissue. The nodules may become progressively larger and can cause pain.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Ulna hypoplasia with mental retardation: A condition which is characterised by short upper limbs, club feet, and absence of fingernails.
• Ulnar nerve injury: Damage to the ulnar nerve in the elbow and arm.
• Underarm bruise: A haematoma that occurs on the underarm.
• Underarm burning sensation: A burning sensation in the underarm.
• Underarm itch: A sensation that causes a desire to scratch the underarms.
• Underarm lump: Lump in the armpit or underarm region
• Underarm pain: A feeling of distress and agony caused by the stimulation of pain nerve endings in the underarm
• Underarm paresthesia/ tingling: A loss of sensation located in the underarm.
• Underarm rash: An eruption on the skin of the underarm.
• Underarm symptoms: Symptoms affecting the underarm area
• Underarm tingling/ paresthesia: A tingling sensation located in the underarm
• Unusual facies, digital anomalies, and supernumerary teeth: A rare, dominantly inherited syndrome characterized mainly by an unusual face, extra teeth and anomalies of the fingers and toes.
• Upper arm burning sensation: A burning sensation on the upper arm
• Upper arm itch: A sensation thatcauses a desire to scratch the skin of the upper arm
• Upper arm numbness: A loss of sensation located at or around the upper arm
• Upper arm pain: A feeling of distress and agonycaused by the stimulation of pain nerve endings in the upper arm
• Upper arm paresthesia/ tingling: A loss of sensation located at or around the upper arm
• Upper arm rash: An eruption on the skin of the upper arm.
• Upper arm spasm: A sudden involuntary contraction of a muscle or of muscles of the upper arm
• Upper arm tingling/ paresthesia: A tingling sensation located on the upper arm
• Upper arm weakness: A decrease in the usual strength of the movements of the upper arm
• Upton Young syndrome: A syndrome which is characterised by the association of multiple symptoms including mental retardation and multiple nevi
• Urban rogers meyer syndrome: A rare syndrome characterized by mental retardation, short stature, hand contractures, genital anomalies and other abnormalities.
• Urophathy distal obstructive polydactyly: A rare syndrome characterized by extra digits and an obstructive urinary system disorder.
• VACTERL association: A rare syndrome characterized by often severe deformities involving the limbs, kidneys, anus, heart, esophagus and spine.
• Vagneur Triolle Ripert syndrome: A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems
• Valproic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Valproic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Valproic acid antenatal infection: A condition which usually occurs in a fetus due to the mother taking valproic acid for epileptic seizures
• Van Maldergem Wetzburger Verloes syndrome: A syndrome characterised by abnormalities of the cerebrum, face, and articular joints.
• Vasotec - Teratogenic Agent: There is evidence to indicate that exposure to Vasotec (an ACE inhibitor) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
• Velofacioskeletal syndrome: A ver rare sydnrome characterized mainly by short stature and facial and skeletal abnormalities.
• Venencie Powell Winkelmann syndrome: A congenital condition that is characterised by the occurrence of a number of clinical signs and symptoms
• Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.
• Ventruto Digirolamo Festa syndrome: A rare syndrome characterized primarily by premature fusion of skull bones and finger, toe and hip abnormalities.
• Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
• Viljone Kallis Voges syndrome: A syndrome characterised by microcephaly, short statures, brachydactyly, lowe set ears, prominent nose and mental retardation
• Vitamin B6 - adverse effects: Regular use of large doses of vitamin B6 supplements can cause adverse effects.
• Vitiligo: A condition which is characterized by chronic pigmentary changes to the skin seen by white patches
• Vitiligo mental retardation facial dysmorphism uremia: A condition that is characterised by a number of symptoms including mental retardation, facial dysmorphism and uremia
• Vohwinkel syndrome: A rare condition where tight bands of thickened skin form around the base of fingers and toes and generally leads to self-amputation of the digit. Hearing loss is also associated with the condition.
• Walbaum Titran Durieux Crepin syndrome: A syndrome characterised by multiple abnormalities
• Wallerian degeneration: A syndrome that is characterised by the degeneration of the peripheral nerve axon distal to its site of transection in the central nervous system
• Warfarin syndrome: Various physical and other abnormalities that can result from the use of the drug Warfarin during the first trimester of pregnancy.
• Watson syndrome: A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
• Weakness: Symptoms causing weakness of the body
• Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
• Wegmann Jones Smith syndrome: A syndrome which is characterised by the occurrence of short limbs, oedema and iris coloboma
• Welander distal myopathy, Swedish type: A very slowly progressing muscle fiber degeneration that starts as mild weakness in the small muscles of hands and feet and may eventually spread to neighbouring muscles.
• Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.
• West African Trypanosomiasis: West African sleeping sickness from the tsetse fly
• Whiplash Injuries: An injury to the neck when the neck is rapidly forced backward and then forwards or vice versa. It most commonly occurs in vehicle accidents when the vehicle is stopped abruptly or pushed forwards suddenly.
• Whistling face syndrome, recessive form: A rare, recessively inherited syndrome characterized mainly by a characteristic "whistling" face and hand anomalies. The range of symptoms are variable.
• White fingers: The appearance of pale/white fingers.
• White nails: White or pale nails.
• Whitlow: Fingertip soft pad infection
• Wiedemann Oldigs Oppermann syndrome: A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities.
• Wiedemann-Tolksdorf syndrome: A syndrome involving mental retardation, speech problems, rapid growth, unusual face and finger and toe anomalies.
• Wilkes Stevenson syndrome: A syndrome that is characterised by multiple congenital abnormalities
• Willems De vries syndrome: A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate
• Wolf-Hirschhorn Syndrome: A syndrome which is caused by a partial deletion of the short arm of chromosome 4.
• Wrist blueness: A blue discolouration of the wrist.
• Wrist bruise: A haematoma that occurs on the wrist.
• Wrist burning sensation: A burning sensation on the wrist.
• Wrist coldness: A cold sensation occurring on the wrist.
• Wrist conditions: Any condition that affects an individuals wrist
• Wrist drop: Flexed position of the hand due to paresis of the muscles in the hand, wrist and fingers.
• Wrist injury: A condition that is characterised by an injury to the wrist
• Wrist itch: A sensation that causes a desire to scratch the skin of the wrist.
• Wrist lump: A palpable lesion located anatomically on the wrist.
• Wrist pain: Pain affecting the wrist area or joint
• Wrist paralysis: A loss of the motor and or sensory function of the wrist due to either a muscular or neural mechanism.
• Wrist paresthesia/ tingling: A loss of sensation located at or around the wrist.
• Wrist rash: An eruption on the skin of the wrist.
• Wrist spasm: A sudden involuntary contraction of a muscle or of muscles in the wrist.
• Wrist sprain: Damage to ligaments in the wrist.
• Wrist swelling: Swelling at or near the wrist joint
• Wrist symptoms: Symptoms of the wrist area and joint
• Wrist tingling/paresthesias: A tingling and numbness that is located in the wrist
• Wrist weakness: A decrease in the usual strength of the movements of the wrist.
• XK aprosencephaly: An extremely rare condition where the forebrain is absent as well as other abnormalities.
• Xanax withdrawal: Symptoms that occur when Xanax use is discontinued or reduced. Xanax is a central nervous system depressant. Symptoms may vary depending on the level of dependence.
• Yaws: A rare infections disease caused by the spiral-shaped bacteria Treponema pertenue. The disease consists of three phases: skin lesions are followed by bone, joint and widespread skin symptoms and finally by inflammation and destruction of cartilage in the nose, pharynx and palate. Transmission can be through direct contact with infected skin, insect bites or sex.
• Yersiniosis: A condition which is characterized by infectious diarrhea, enteritis, ileitis and occasionally septicaemia
• Young Simpson syndrome: A condition that is characterised by mainly mental retardation and physical signs of hypothyroidism
• Yunis Varon syndrome: A multisystem genetic disease that affects the skeletal system in particular
• Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.
• Zimmerman-Laband syndrome: A rare inherited condition characterized by fibrosis of the gums and ear, nose, nail and finger abnormalities.
• Zuclopenthixol - Teratogenic Agent: There is evidence to indicate that exposure to Zuclopenthixol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Zunich-Kaye syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.

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