Glossary for Spine symptoms

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

• $1q terminal deletion$: A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities.
• $3C syndrome$: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
• $3q deletion$: 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.
• $47,XXX syndrome$: 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.
• $4p16.3 deletion$: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
• AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
• 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.
• Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
• Acrodysplasia scoliosis: A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies.
• 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.
• Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
• Acromesomelic dysplasia Hunter Thompson type: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones.
• Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
• 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.
• Acropectorovertebral dysplasia: A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones.
• Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
• Agenesis of the corpus callosum - mental retardation - coloboma - micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
• Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
• Akesson syndrome: A very rare syndrome characterized by excessive skin folds and furrows on the scalp, mental retardation the failure of the thyroid to develop.
• Alagille syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
• Albers-Schonberg disease - Adult benign dominant form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic.
• Alkaptonuria: A rare inherited metabolic disease characterized by homogentisic aciduria, arthritis and ochronosis. Symptoms include darkening of urine, alkinization due to overproduction of homogentisic acid, arthritis in the large joints and black ochronotic pigmentation of cartilage and collagen tissue. However, many of these symptoms may not occur until middle age. The condition may also be caused by chronic phenol poisoning.
• Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
• 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.
• Amnion rupture sequence: A rare disorder where the amniotic sac is ruptured resulting in various abnormalities.
• Angiokeratoma - mental retardation - coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
• Ankylosing Spondylitis: A form of chronic inflammation of the spine which may also affect joints in the shoulder, hip, neck, ribs and jaw. May result in loss of mobility. Also called Marie-Strumpell disease.
• Ankylosing spondylarthritis: Inflammation of one or more spine joints. The spine becomes progressively painful and stiff and the spine joints may eventually fuse and cause disability. The condition may vary from mild to severe. Inflammation can affect other joints and tissues.
• 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 plus syndrome: An extremely rare disorder characterized by absent or very small eyes, underdeveloped ears and other facial anomalies.
• Anotia - facial palsy - cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
• Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
• Arthritis - short stature - deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
• Arthrogryposis - severe scoliosis: A rare disorder characterized by severe scoliosis and permanent flexion of muscles in the ends of the limbs. Other variable features may alsobe present.
• Arthrogryposis - spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth.
• Arthrogryposis due to muscular dystrophy: A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth.
• 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 type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
• 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, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
• Arthropathy, progressive pseudorheumatoid, of childhood: A form of progressive rheumatoid arthritis that affects children.
• Ashley syndrome: A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities.
• Asymmetric short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
• Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
• Aural atresia - multiple congenital anomalies - mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
• Back pain: Pain in the back region.
• Back symptoms: Symptoms affecting the back
• Bannayan-Zonana syndrome: A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths.
• Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
• Bartenwerfer syndrome: A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease.
• Battaglia Neri syndrome: A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies. Only two reported cases of this syndrome.
• Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
• Becker Muscular Dystrophy: A muscular dystrophy charaterised by enlargement of muscles
• Becker nevus syndrome: A rare disorder characterized by a pigmented hairy skin patch associated with skin, muscle or bone defects on the same side of the body as the skin lesion.
• Behcet's Disease: Recurring inflammation of small blood vessels affecting various areas.
• Bentham-Driessen-Hanveld syndrome: A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation.
• Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
• Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
• Bone dysplasia - corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
• Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
• Bowing of long bones congenital: A rare congenital disorder where the long bones in the arms and legs are abnormally bowed or shortened. The most common bones involved are the thigh, shin and forearm (ulna) bones. The deformity is often associated with other abnormalities.
• Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.
• Brachydactyly - tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
• Bruns-Garland syndrome: Spinal cord damage that occurs in some diabetics and results in weakness and wasting in the arms and legs.
• Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
• CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
• Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
• Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
• 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.
• Camurati-Engelmann Disease: A very rare genetic disease thickening of areas of bone causing pain, weakness and wasting. Usually affects the legs during childhood. Also called diaphyseal dysplasia.
• Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.
• Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
• Caudal duplication: A rare disorder where some of the embryonic tissues that develop into the lower spine, genitalia and lower abdominal organs are duplicated - probably due to the incomplete separation of twins arising from one egg. The range of possible defects is extensive but often they are able to be surgically corrected and a relatively normal life is possible.
• Cerebellar ataxia, X-linked: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary.
• Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
• Cerebelloparenchymal autosomal recessive disorder 3: A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems.
• Cerebro oculo skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
• Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
• 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 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 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, 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.
• Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
• Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
• Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
• Chromosome 1, Terminal deletion: A genetic disorder where a portion of the genetic material from the long arm of chromosome 1 is missing. The symptoms or severity may vary somewhat between patients.
• 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, trisomy 10pter p13: A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes.
• Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable 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 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 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
• Chromosome 14q, proximal duplication: A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature.
• 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, distal trisomy 15q: A very rare chromosomal disorder where the end part of the long arm (q) of chromosome 15 occurs three times in each cell instead of two. Symptoms and severity depend on the size of the chromosomal portion that is duplicated.
• 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, partial duplication (distal q arm): A rare chromosomal disorder involving an extra copy of genetic material from the distal part of 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: 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. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is involved.
• 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 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 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 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 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
• 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 20, deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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 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 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
• 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 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
• 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 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
• 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, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
• Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
• 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, 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 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, 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 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 inversion or duplication: A very rare genetic disorder where a portion of chromosome 9 is inverted or 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, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various 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 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 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) 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 9p deletion syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome 9 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) 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 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
• Chromosomes 1 and 2, monosomy 2q duplication 1p: A very rare chromosomal disorder where a portion of chromosome 2q shifts to chromosome 1p resulting in duplication of chromosome 1p and deletion of chromosome 2q. The defect results in various abnormalities including retarded fetal growth, small head and skeletal and facial defects.
• Cleft lip - palate - abnormal thumbs - microcephaly: A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate.
• Cleft palate - short stature - vertebral anomalies: A very rare syndrome characterized by a cleft palate, short stature and abnormalities of the vertebrae in the spine.
• Clomiphene Citrate - Teratogenic Agent: There is evidence to indicate that exposure to Clomiphene Citrate 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.
• Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
• 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.
• Collagenopathy, type 2 alpha 1: Collagenopathy, type 2 alpha 1refers to a wide range of conditions that can result from problems with cartilage collagen tissue due to a defect in the COL2A1 gene. Defects in the COL2A1 gene result in defective or reduced collagen production which in turn affects the development of connective tissues including bones. There are a wide range of possible conditions and symptoms. Some of the conditions include: spondyloepiphyseal dysplasia congenita, Stickler Syndrome, hypochondrogenesis and Kneist dysplasia.
• Combarros Calleja Leno syndrome: A rare disorder characterized by the association of glaucoma at birth with a form of ataxia.
• Congenital Gigantism with Skeletal Dysplasia: A rare syndrome characterized mainly by the association of a large size at birth with various skeletal anomalies.
• Congenital Muscular Dystrophy: Muscle weakness and wasting that starts at birth or around the time of birth. The severity and extent of muscle involvement is greatly variable.
• Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
• Congenital fiber type disproportion: A rare inherited disease involving abnormalities in the growth of type I muscle fibers.
• Congenital herpes simplex: An infant born with a herpes simplex infection transmitted through the mother. The infection may be localized or involve various internal organs and even the central nervous system in which case death can occur.
• Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Corneal cerebellar syndrome: A very rare syndrome involving eye problems and progressive motor control problems such as ataxia and weakness on one side of the body.
• 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.
• Coumarin Derivatives - Teratogenic Agent: There is evidence to indicate that exposure to Coumarin Derivatives 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.
• Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
• Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
• 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.
• Cushing-like symptoms: Symptoms similar to those of Cushing's disease
• Cutis laxa, recessive: A recessively inherited form of cutis laxa which is characterized by loose, inelastic skin and is often associated with other serious internal disorders.
• Cutis laxa, recessive type 1: A severe, recessively inherited form of cutis laxa which is characterized by loose, inelastic skin and emphysema early in life.
• Cutis laxa, recessive type 2: A very rare syndrome characterized primarily by loose skin and delayed development.
• Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webvbed fingers and toes and abnormal spinal development.
• Daish-Hardman-Lamont syndrome: A very rare syndrome characterized mainly by loose joints, tall stature and buildup of fluid inside the skull.
• 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).
• Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
• Decreased folate: Decrease in one of the B vitamins required for red blood cell production
• Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
• Deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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.
• Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
• 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.
• Dermatocardioskeletal syndrome, Boronne type: A very rare syndrome characterized mainly by thick skin, thick gums, acne, short fingers and a heart defect.
• Desbuquois dysplasia: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
• Desbuquois dysplasia-like syndrome: A rare syndrome characterized by various anomalies similar to Desbuquois syndrome but there is no mental retardation, hand abnormalities or facial anomalies involved.
• Desbuquois syndrome: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
• DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
• Diastematomyelia: A congenital malformation involving a split in the spinal cord (diastematomyelia). Symptoms vary according to the size and location of the defect. Mild cases may cause few if any symptoms.
• Diastrophic dysplasia: A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities.
• Dicoumarol - Teratogenic Agent: There is evidence to indicate that exposure to Dicoumarol 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.
• Dicumarol - Teratogenic Agent: There is evidence to indicate that exposure to Dicumarol 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.
• Diffuse idiopathic skeletal hyperostosis: A type of degenerative joint disease where spinal column ligaments lose their flexibility due to calcification.
• Diphallus - rachischisis - imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
• Diphenadione - Teratogenic Agent: There is evidence to indicate that exposure to Diphenadione 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.
• 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.
• Disuse osteoporosis: Disuse osteoporosis is defined as localized or generalized bone loss resulting from reduction of mechanical stress on bones.
• Duchenne Muscular Dystrophy: An inherited degenerative disease of the muscles which progresses rapidly compared to other muscle wasting diseases.
• Dup(1) (q11-q25) mosaicism: A very rare chromosomal disorder where a portion of the long arm (q11-q25) of chromosome one is duplicated in some of the body's cells.
• 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 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.
• Dwarfism: An abnormally short individual
• Dyggve-Melchior-Clausen Syndrome: A rare genetic bone growth disorder characterized by short stature and other skeletal deformities.
• Dyserythropoietic anemia, congenital type 1: A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present.
• Dysostosis: Defective bone formation.
• Dysraphism - cleft lip palate - limb reduction defects: A very rare syndrome characterized mainly by an abnormal opening in the lip and palate, forearm abnormalities, spinal cord defects and an abnormal abdominal opening allowing the abdominal contents to protrude.
• Eccentrochondrodysplasia: 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.
• Ectodermal dysplasia - neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
• Ehlers danlos syndrome: An inherited disorder of the connective tissue causing it to become weak and fragile. Connective tissue is found in skin, muscles, tendons and ligaments and hence all of these may be affected by weakness
• Ehlers-Danlos syndrome type VI: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities.
• Ehlers-Danlos syndrome with periventricular heterotopia: The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome.
• Ehlers-Danlos syndrome, 6B: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.
• 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.
• Ehlers-Danlos syndrome, kyphoscoliosis type: A rare genetic connective tissue disorder caused by deficiency of the lysyl hydroxylase enzyme and is characterized by progressive scoliosis and muscle weakness and fragile sclera - previously known as EDS type 6.
• 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.
• Emerinopathy: A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting.
• Emery-Dreifuss muscular dystrophy, X-linked: A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms.
• Enchondromatosis-dwarfism-deafness: A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development.
• 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.
• Epilepsy - microcephaly - skeletal dysplasia: A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities.
• 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.
• Erdheim disease II: A rare condition that occurs as a result of acromegaly which is where excessive growth hormone production results in gigantism. Symptoms include overgrowth of cartilage in parts of the spine and collar bone which causes kyphosis, pain and restricted movement.
• Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.
• Ethanol - Teratogenic Agent: There is evidence to indicate that exposure to Ethanol 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.
• FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
• Facio-cardio-musculo-skeletal syndrome: A rare syndrome characterized by facial, heart, muscle and skeletal abnormalities.
• Facioskeletalgenital syndrome, Rippberger type: A rare syndrome characterized by facial, skeletal and genital abnormalities.
• Familial dysautonomia: An inherited biochemical disorder that primarily affects the autonomic and sensory nervous system.
• Femoral facial syndrome: A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.
• Fibrodysplasia Ossificans Progressiva: A rare genetic connective tissue disorder characterized by a short toe, fibrous dysplasia and bone formation in muscles, ligaments, tendons and soft connective tissue.
• Fibrous dysplasia of bone: A bone development abnormality that can occur in one or more bones. The bone develops tumor-like growths in bones where normal bone is replaced by fibrous tissue. It can occur as a single lesion or in multiples. Malignancy can occur but is rare. Symptoms are determined by the location and extent of the abnormality.
• Focal dermal hypoplasia: A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk ant extremities.
• Franceschini-Vardeu-Guala syndrome: A very rare disorder characterized by premature puberty, lower lip pits and Kabuki syndrome. Kabuki syndrome is a mental retardation syndrome which also involves a range of physical abnormalities.
• Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
• Fried syndrome: A rare syndrome characterized mainly by mental retardation, buildup of fluid inside the skull and an unusual facial appearance. The disorder is inherted in a X-linked manner.
• Friedreich ataxia - congenital glaucoma: A rare disorder characterized by glaucoma at birth and a progressive neuromuscular disorder.
• Friedreich's ataxia: Progressive muscle weakness from nerve damage.
• Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
• Fryns macrocephaly: A rare syndrome characterized by a large head, seizures, spasticity, weakness 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.
• Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
• Fucosidosis type II: A form of the biochemical disorder called fucosidosis where an enzyme deficiency (alpha-fucosidase) results in the accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. Symptoms start later and progress slower than in type I and is distinguished by warty skin growths.
• Gangliosidosis, generalized GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
• Gaucher disease type 3: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 3 is a subacute neurological form which often first appears in childhood.
• Geroderma osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplastica hereditaria: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Gerodermia osteodysplasticum: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
• Ghosal syndrome: A very rare syndrome characterized mainly by difficult to treat anemia and skeletal abnormalities.
• Gigantism partial - nevi - hemihypertrophy - macrocephaly: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
• 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.
• Glycogen storage disease type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down.
• Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.
• Gurrieri-Sammito-Bellussi syndrome: A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities.
• Heart defects - limb shortening: A very rare syndrome characterized mainly by short limbs and heart defects.
• Hemi 3 syndrome: A very rare syndrome where parts of the body undergo excessive growth give the body an asymmetrical appearance.
• Hemihypertrophy in context of NF: Enlargement of one side of the body that frequently occurs in sufferers of neurofibromatosis.
• Hereditary peripheral nervous disorder: A group of inherited disorders affecting the peripheral nerves (nerves other than the brain and spinal cord). The motor, sensory and/or autonomic nerves may be affected. Examples of such conditions includes Dejerine-Sottas disease and Charcot-Marie-Tooth disease.
• Herniated disc: A misaligned or "slipped" disc in the spine.
• Herpes, Neonatal: Neonatal herpes is the infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions.
• Herrmann Opitz arthrogryposis syndrome: A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature.
• Holoprosencephaly deletion 2p: A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
• Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
• Hunched shoulders: Roundess, hump, or hunching of shoulders
• Hunching: Hunching or stooping posture symptoms
• Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
• Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
• Hydrocephalus - costovertebral dysplasia - Sprengel anomaly: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
• 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.
• 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.
• Hypoplastic thumb - mullerian aplasia: A rare disorder characterized by an underdeveloped thumb, vertebral abnormalities and abnormal development or lack of a part of the female reproductive system (uterus, cervix and upper vagina). The external genitalia appear normal and the ovaries usually function normally.
• Hypothyroidism - dermoid cyst - cleft palate: A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities.
• Idiopathic adolescent scoliosis: Spinal curvature that occurs in adolescents for no apparent reason.
• Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia: An inherited muscle wasting disorder associated with dementia and bone disease.
• 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.
• Intellectual deficit - cataracts - calcified pinnae - myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Intracranial aneurysms - multiple congenital anomaly: A very rare syndrome characterized mainly by brain aneurysms (dilated blood vessel) and various other abnormalities.
• Jaffe-Lichtenstein syndrome: A rare genetic bone disorder characterized by benign bone growths which can cause painful swellings and bone deformities and makes bone prone to fractures.
• Jarcho-Levin Syndrome: A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.
• Jequier-Kozlowski-skeletal dysplasia: A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies.
• Jorgenson-Lenz syndrome: A very rare syndrome characterized mainly by
• Jung-Wolff-Back-Stahl syndrome: A very rare syndrome characterized mainly by brain abnormalities, mental retardation and facial and skull anomalies.
• Juvenile Rheumatoid Arthritis: Chronic arthritis affecting children and teens
• Juvenile osteoporosis: Osteoporosis (progressive bone loss) that occurs in children. Osteoporosis in children can be caused by certain medical conditions (e.g. diabetes, malabsorption syndromes, kidney disease, hyperthyroidism), certain medications (e.g. corticosteroids, anticonvulsants), prolonged immobility or sometimes for no detectable reason (idiopathic).
• 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.
• Kashin-Bek disease: A type of osteoarthritis occurring mostly in children in China, Korea and Siberia and possibly caused by eating wheat infected with a particular fungus.
• Kennerknecht-Sorgo-Oberhoffer syndrome: A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart.
• Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
• Klippel Feil Syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• Klippel-Feil syndrome recessive type: A rare recessively inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• Klippel-Feil syndrome, dominant type: A rare dominantly inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• 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.
• Kyphosis: Increased curvature of the thoracic spine, giving the appearance of being hunched over.
• Larsen syndrome: A rare genetic disorder characterized by multiple joint dislocation, a flat face and short fingernails.
• Larsen-like osseous dysplasia - dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
• Larsen-like syndrome, lethal form: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities. The condition is a manifestation of abnormal collagen formation.
• Larsen-like syndrome, lethal type: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities.
• Lateral body wall complex: A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth.
• Leg absence - deformity - cataract: A very rare syndrome characterized mainly by missing bones in one leg, cataracts and progressive spinal curvature.
• Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
• Leukodystrophy: A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptoms is determined by the chemical involved but one of the main symptoms for all the leukodystrophies is a gradual loss of previously acquired mental or physical skills.
• Limb-girdle muscular dystrophy type 2C: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the gamma-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Limb-girdle muscular dystrophy type 2D: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the alpha-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Limb-girdle muscular dystrophy type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Limb-girdle muscular dystrophy type 2F: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the delta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Lipidosis with triglyceride storage disease: A very disorder involving abnormal storage of fat (triglycerides in parts of the body). The condition causes blood abnormalities as well as skin, eye and hearing problems.
• Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
• Lockwood-Feingold syndrome: A rare genetic disorder characterized mainly by arthritis, skeletal abnormalities and a lack of subcutaneous fat.
• Lordosis: Inward curvature of the spine.
• Lujan-Fryns syndrome: A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome).
• Lurie-Kletsky syndrome: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, abnormal brain development (corpus callosum) and a diaphragmatic hernia.
• Lymphocytic choriomeningitis: Rodent-borne viral disease often causing meningitis or encephalitis
• Maffucci Syndrome: A rare genetic disorder characterized by benign cartilage overgrowths, skeletal deformities and dark red irregular skin patches.
• Marburg virus: Serious virus related to Ebola.
• Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
• 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.
• Marfan-Like syndrome: Any congenital condition with a group of symptoms that resembles Marfan syndrome but doesn't quite fulfill all the criteria. Marfan syndrome is a connective tissue disorder that affects the skeleton, lungs, eyes, heart and blood vessels.
• Marinesco-Sjogren syndrome: A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly.
• Mastocytosis - short stature - hearing loss: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
• Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
• McKusick type metaphyseal chondrodysplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
• Mental retardation - arachnodactyly - hypotonia - telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
• Mental retardation - hip luxation - G6PD variant: A very rare syndrome characterized mainly by mental retardation, partially dislocated hips and an enzyme defect (G6PD).
• Mental retardation - macrocephaly - coarse facies - hypotonia: A very rare syndrome characterized mainly by mental retardation, large head, coarse face and reduced muscle tone.
• 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 stature - heart and skeletal anomalies: A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies.
• Mental retardation - short stature - scoliosis: A very rare syndrome characterized mainly by mental retardation, short stature and scoliosis.
• Mental retardation - skeletal dysplasia - abducens palsy: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and weakness of an eye muscle.
• Mental retardation athetosis microphthalmia: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
• Mental retardation cataracts calcified pinnae myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
• Mental retardation, Wolff type: A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline.
• Mental retardation, X-linked - seizures - psoriasis: A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder.
• Mental retardation, X-linked, 93: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the BRWD3 gene. Female carriers may also suffer from some mental deficiency.
• Mental retardation, X-linked, Cabezas type: A rare X-linked disorder characterized by mental retardation, muscle wasting, short stature and other problems. 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.
• Mental retardation, X-linked, Reish type: A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing problems. 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.
• 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.
• Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
• 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.
• Metatropic dwarfism: A rare genetic disorder characterized by extremely small stature, short limbs and skeletal abnormalities.
• Michels-Caskey syndrome: A very rare disorder characterized by underdeveloped thumbs, spine deformities and lack of development of the female reproductive organs such as the uterus and vagina (mullerian duct aplasia). The external genitalia may appear to be normal.
• Micrencephaly corpus callosum agenesis: A very rare disorder characterized by abnormal brain development which results in a very small brain. Patients may die during infancy and survivors suffer mental retardation and other physical abnormalities.
• Microbrachycephaly - ptosis - cleft lip: A very rare syndrome characterized mainly by a small, short head, droopy eyelids and a cleft lip.
• Microcephalic osteodysplastic dysplasia, Saul-Wilson type: A rare skeletal disorder characterized by various abnormalities including short stature, short digits, cataracts and small head.
• Microcephaly - cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
• Microcephaly - glomerulonephritis - Marfanoid habitus: A very rare syndrome characterized mainly by a small head, kidney disorder and a and a tall, slight build.
• Microcephaly brachydactyly kyphoscoliosis: A very rare syndrome characterized by the association of profound mental retardation, a small head, short digits and a curved spine.
• Microsomia - hemifacial - radial defects: A very rare syndrome characterized mainly by a wide range of defects involving the face, ear, mouth, vertebrae and radial bones.
• Midline field defects: Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face.
• Minicore disease: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
• Minicore myopathy with external ophthalmoplegia: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The ophthalmoplegic form is distinguished by the presence of eye muscle weakness. The severity of symptoms is variable.
• Minicore myopathy, moderate, with hand involvement: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The progressive form with hand involvement is less severe than the classic form with breathing problems and scoliosis usually absent or mild. It is distinguished by the presence of hyperlaxity. The severity of symptoms is variable.
• Monosomy 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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.
• 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 A: 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) needed to break it down.
• 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.
• Mucopolysaccharidosis type 6: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (Arylsulfatase ?) needed to break it down.
• Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
• Multicore disease: A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable.
• Multiminicore disease (MmD): A rare congenital muscle disorder involving weakness and wasting of skeletal muscles. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
• Multiple endocrine neoplasia type 2b: A rare genetic disorder characterized by multiple tongue neuromas and medullary thyroid carcinoma.
• Multiple myeloma: A rare malignant cancer that occurs in the bone marrow. More common in skull, spine, rib cage, pelvis and legs.
• 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 pterygium syndrome, autosomal recessive: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
• Muscular Dystrophy: Any of various muscle wasting diseases
• Muscular dystrophy - congenital infantile cataract - hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
• 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 dystrophy, congenital, infantile with cataract - hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
• Muscular dystrophy, congenital, merosin-positive: A very rare group of diseases that involves early infantile onset of muscle weakness, loss of muscle tone and contractures.
• Muscular dystrophy, limb-girdle, autosomal recessive, type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Myasthenic syndrome, congenital, slow-channel: A rare disorder involving progressive muscle wasting and weakness of variable severity depending on the exact origin of the genetic defect. The problem arises from defective processes at the junction of nerve and muscle cells.
• Myopathy congenital multicore with external ophthalmoplegia: A rare disorder characterized by muscle weakness and as well as weakness or paralysis of the external eye muscles. Severity of symptoms are variable.
• Myopathy with lactic acidosis and sideroblastic anemia: A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.
• Myopathy, X-linked with postural muscle atrophy: An inherited, adult-onset muscle disease where the postural muscles become progressively weak and wasted while other muscles become enlarged. During early adulthood, patients tend to have an athletic build and muscle symptoms tend to start during the fourth decade of life. Death usually occurred between the ages of 40 and 75 years of age due to involvement of the heart.
• Myopathy, congenital nonprogressive with Moebius and Robin sequences: A rare inherited disorder characterized by nonprogressive muscle weakness from birth as well as the Moebius (congenital facial palsy with impaired ability to move eyes) and Pierre Robin sequence (underdeveloped jaw, cleft soft palate, abnormal tongue position).
• Nail-Patella Syndrome: A rare inherited disorder characterized by small or absent kneecap and ridged and/or absent nails as well as other abnormalities
• Native American myopathy: A rare genetic disorder characterized by muscle disease from birth, cleft palate and malignant hyperthermia.
• Navajo neurohepatopathy: A rare genetic disease found in Navajo populations. It involves peripheral nerve degeneration, liver disease and corneal ulcers. The genetic disease is believed to be caused by maternal exposure to uranium from waters contaminated by old mines.
• Nemaline myopathy 4: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 4 is caused by a defect on the tropomyosin 2 gene on chromosome 9p13.
• Nemaline myopathy 7: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 7 is caused by a defect on the cofilin-2 gene.
• Nemaline myopathy, early onset type: A 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
• Neural tube defect, folate-sensitive: Neural tube defects caused by abnormal folate or homocysteine metabolism. Neural tube defects are brain or spine defects such as an opening in the spinal cord through which the spinal cord protrudes.
• Neural tube defects X-linked: A very rare disorder where neural tube defects (brain and spine defects) such as spina bifida are inherited in a X-linked manner (only males are affected whereas females are carriers).
• Neurofibromatosis Type 1 (NF-1): Neurofibromatosis Type 1 is a genetic disorder often leading to the development of nerve tumors. The condition is also characterized by skin pigmentation abnormalities.
• 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.
• Neurofibromatosis syndrome Type II: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation, acoustic neuromas and the development of many noncancerous nerve and skin tumors some of which may eventually become malignant - it is a more severe form of type I neurofibromatosis.
• Neurofibromatosis-1: Genetic disorder often leading to tumors on nerves.
• Neurofibromatosis-2: Genetic disorder often leading to tumors on nerves.
• Neuronal intranuclear inclusion disease: A very rare syndrome characterized mainly by muscle and nerve degeneration.
• Nevoid basal cell carcinoma syndrome: A rare genetic disorder characterized by basal cell carcinomas, broade face and rib abnormalities.
• Nicoumalone - Teratogenic Agent: There is evidence to indicate that exposure to Nicoumalone 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.
• Night blindness - skeletal anomalies - unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
• 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.
• Occult spinal dysraphism: A rare disorder characterized by progressive neurological deterioration due to compression of the spinal cord in the spine.
• Oculomelic amyoplasia: A rare genetic disorder characterized by limb contractures (tightening of muscles which limits movement) from birth and eye abnormalities.
• Omphalocele - exstrophy - imperforate anus: A very rare syndrome characterized mainly by the absence of an anal opening, spine defects and omphalocele (abdominal organ protruding from the belly button).
• Ophthalmoplegia, progressive external - scoliosis: A very rare syndrome characterized mainly by progressive eye muscle weakness and scoliosis.
• Opisthotonos: A condition which is characterized by ones body being at an extreme state of hyperextension
• Opisthotonus: is a state of extreme hyperextension and spasticity of the head, neck and spinal column
• Opthalmoplegia progressive external scoliosis: A rare disorder characterized by progressive weakening of external eye muscles and scoliosis.
• Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Osteoarthritis: A form of degenerative arthritis due to chronic degeneration
• Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
• Osteodysplasia, familial, Anderson type: A very rare syndrome characterized mainly by
• Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
• Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
• Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
• Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
• Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
• Osteogenesis imperfecta, type 6: A rare form of the genetic connective tissue disorder characterized by fragile bones and light-colored eyes. There are a number of types of osteogenesis imperfecta and type 6 is considered a moderate to severe form.
• Osteomyelitis: An infection that occurs in bone
• Osteoporosis: Bone mass loss (osteoporosis) as a symptom
• Osteosclerosis, abnormalities of nervous system and meninges: A very rare syndrome characterized mainly by increased bone density and nervous system abnormalities.
• 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.
• Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
• Paget's disease of bone: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile.
• Paralysis symptoms: Loss of body control and/or feeling.
• Pelvic-shoulder dysplasia: A very rare syndrome characterized mainly by pelvic and shoulder blade 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.
• 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.
• Phenindione - Teratogenic Agent: There is evidence to indicate that exposure to Phenindione 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.
• Phenprocoumon - Teratogenic Agent: There is evidence to indicate that exposure to Phenprocoumon 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.
• Pilo dento ungular dysplasia - microcephaly: A very rare syndrome characterized mainly by hair, tooth and nail abnormalities as well as a small head.
• Pilotto syndrome: A very rare syndrome characterized mainly by congenital heart disease, cleft lip and palate, scoliosis, short stature and mental retardation.
• 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.
• Posterior column ataxia with retinitis pigmentosa: A very rare syndrome characterized mainly by progressive ataxia and eye degeneration resulting in blindness by the third decade as well as muscle problems.
• Postmenopausal osteoporosis: Type 1 osteoporosis is caused by a lack of estrogen, the main female hormone.
• Prader-Willi syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and small hands and feet.
• Primary osteoporosis: There are two primary kinds of osteoporosis: type I osteoporosis and type II osteoporosis. The determining factor for the actual existence of osteoporosis, whether type I or type II, is the amount of calcium left in the skeleton and whether it places a person at risk for fracture.
• Primrose Syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Progressive spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. The severity of symptoms and survival varies depending on the particular form of the condition. Death can occur as early as infancy whereas some forms allow survival into adulthood.
• Proteus Syndrome: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
• Proud-Levine-Carpenter syndrome: A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities.
• Pseudoachondroplasia: A rare genetic disorder characterized by bone growth and development abnormalities.
• Pseudoachondroplastic dysplasia 2: A very rare syndrome characterized mainly by retarded growth, short limbs and other skeletal deformities.
• Pseudoxanthoma elasticum, forme fruste: An inherited systemic disease of connective tissue involving progressive calcification and degeneration of elastic fibers throughout the body, including the skin, eyes and cardiovascular system.
• Pycnodysostosis: A rare inherited biochemical disorder involving an enzyme (cathepsin k) deficiency which impairs the processes needed to maintain healthy bones.
• Quattrin mcpherson syndrome: A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance.
• Reiter’s syndrome: A form of reactive arthritis characterized by arthritis, urethritis, conjunctivitis and skin lesions.
• Retinopathy pigmentary - intellectual deficit: A rare syndrome characterized by eye disease and mental retardation.
• Retinopathy pigmentary mental retardation: A rare genetic condition characterized by degeneration of retinal pigments, cataracts, small head and mental retardation.
• Retinopathy, pigmentary and mental retardation: A rare syndrome characterized by eye disease and mental retardation.
• Rett's syndrome: Autism-like behavioral syndrome in infant girls
• Rhizomelic chondrodysplasia punctata, type 1: A rare genetic disorder involving abnormal development of bones which causes abnormal calcification of bones near the joints. The genetic defect is located on chromosome 6q22-q24.
• Rhizomelic chondrodysplasia punctata, type 3: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (alkyldihydroxyacetonephosphate synthase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 2q31.
• 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.
• Richieri-Costa Da Silva syndrome: A very rare syndrome characterized mainly by mental retardation, skeletal anomalies and delayed muscle relaxation.
• Rickets: A condition that affects the bones due to vitamin D 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.
• Robinson syndrome: A very rare condition observed in a West Coast Indian family. The condition is characterized by scoliosis, hearing impairment, ataxia and sensory loss. The severity, rate of progression and age of onset of the neuropathic symptoms was highly variable. Sensory symptoms tend to be most prominent in the hands and feet.
• Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
• Rudd-Klimek syndrome: A very rare syndrome characterized mainly by abnormal development of the tailbone with deformities of the urogenital area as well as other anomalies.
• Sacroilitis: Inflammation of the sacral joint
• Sandhaus Ben-Ami syndrome: A rare disorder characterized by an underdeveloped kneecap and other skeletal abnormalities.
• Sarcoglycanopathy: A form of limb-girdle muscular dystrophy involving abnormalities of the sarcoglycan protein which results in progressive muscle weakness. The severity is greatly variably from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
• Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
• Satoyoshi syndrome: A very rare syndrome characterized by alopecia, diarrhea, skeletal abnormalities and painful leg cramps caused by physical exercise or emotional stress.
• Saul-Wilkes-Stevenson syndrome: A very rare syndrome characterized mainly by muscle problems, abnormal skin pigmentation, movement disorder, mental retardation and scoliosis.
• Say-Barber-Miller syndrome: A very rare syndrome characterized mainly by immune system problems and a small head.
• Scheuermann's disease: Bone disease affecting the spine
• Scheurermann's disease: A rare disorder that causes abnormal spine development during adolescence and results in a rounded appearance to the back.
• Schisis association: A medical term used to describe any condition involving two or more malformations of certain types. Malformations can include such things as oral clefts, neural tube defects, diaphragmatic hernias and omphaloceles.
• Schistosomiasis: Parasitic fluke infection in developing countries
• Schwartz newark syndrome: A rare syndrome characterized by pigmentation anomaly, hydrocephaly, spina bifida and a myelomeningocele.
• Schwartz, Cohen-Addad, Lambert syndrome: A rare disorder characterized by increased pigmentation and a central nervous system malformation (myelomeningocele).
• Scoliosis: A condition which is characterized by lateral curvature of the spine
• Scoliosis as part of NF: Spinal curvature associated with a condition called neurofibromatosis. Roughly a quarter of patients with neurofibromatosis will develop scoliosis. Neurofibromatosis is a rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many benign nerve and skin tumors. The scoliosis may become severe enough to affect heart and lung function or may be relatively mild.
• Scoliosis with unilateral unsegmented bar: Abnormal spinal development where two or more vertebrae fail to separate on one side of the spine which causes the spine to curve. Thus several vertebrae are fused on one side of the spine. As the individual grows, the spine becomes increasingly curved to the point where lung and heart function may be affected.
• Seckle syndrome: A rare genetic disorder characterized by short stature, microcephaly and a prominent nose.
• Secondary osteoporosis: describe osteoporosis resulting from a medical condition or the use of certain medications.
• Senile osteoporosis: Senile osteoporosis is reduced mineralization of bone due to advanced age.
• Seven point syndrome: A specific group of deformities that is associated with infantile scoliosis.
• Shaken Baby Syndrome: A condition caused by violent shaking of a baby.
• 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 stature - contractures - hypotonia: A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures.
• 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, 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.
• Shprintzen omphalocele syndrome: A rare syndrome characterized mainly by abnormal development of the pharynx and larynx which can result in a narrowed airway. Protrusion of intestines through the belly button also occurs. The voice is high pitched and spinal curvature and learning problems are other common symptoms.
• Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
• Skeletal dysplasia - orofacial anomalies: A very rare disorder characterized mainly by face, mouth and skeletal abnormalities.
• Skeletal dysplasia, San Diego type: A very rare disorder characterized mainly by short limbs and flattened spinal vertebrae. Infants are stillborn or die soon after birth.
• Small syndrome: A rare genetic disease characterized by deafness, muscle weakness and wasting, mental retardation and eye disorders.
• 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 paraplegia 25, autosomal recessive: A rare genetic disorder characterized mainly by progressive weakness of the lower legs. The condition also involves herniation of spinal discs.
• Spastic paraplegia 3, autosomal dominant: A an early onset, very slow progressing form of spastic paraplegia which involves lower leg spasticity and weakness.
• Spastic paraplegia 7, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
• Spastic tetraplegic - cerebral palsy: A rare disorder characterized by the association of spasticity (muscle tightness of the arms and legs as well as cerebral palsy.
• Spina bifida: A congenital condition which is characterized by the abnormal closure of the vertebral arch
• Spina bifida - hypospadias: A very rare syndrome characterized mainly by spina bifida (a opening in the spine) and an abnormally placed urethral opening (hypospadias).
• Spinal cord injury: spinal cord injury causes myelopathy or damage to white matter or myelinated fiber tracts that carry sensation and motor signals to and from the brain
• Spinal cord neoplasm: A growth (tumor) that arises from the spinal cord. The tumor may be benign or malignant.
• Spinal dysostosis, type Anhalt: A very rare syndrome characterized by various spinal abnormalities.
• Spinal muscular atrophy type 2: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord.
• 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.
• Spinal pain experienced on movement: When a person experiences pain on movement of the spine
• Spinal pain experienced when lying still: When a person experiences pain in the spine whilst lying still
• Spinal pain on palpation of the spinal vertebrae: A condition which is characterized by the occurrence of pain on palpation of the spinal vertebrae
• Spine Tenderness: Pain in the region of the spine.
• Spine pain: Pain affecting the spine or spinal cord
• Spine symptoms: Symptoms affecting the spine
• Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance.
• Spinocerebellar ataxia, autosomal recessive 1: A neurological disorder characterized by progressive ataxia, tremor and muscle weakness and wasting. The rate of progression and severity is variable with some needing wheelchairs in their second decade and others still capable of some walking in their 4th decade.
• Split hand split foot mandibular hypoplasia: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
• Sponastrime dysplasia: A rare genetic disorder involving severe skeletal changes that results in short limbs, dwarfism and spinal and facial bone abnormalities.
• Spondylo camptodactyly syndrome: A very rare syndrome characterized by a finger abnormality, curved spine and flat neck vertabrae
• Spondylocarpotarsal synostosis: A rare genetic disorder characterized by short stature, fusion of toe and finger bones and failure of spinal segmentation.
• Spondylocostal dysostosis with anal atresia and urogenital anomalies: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form.
• Spondylocostal dysostosis, autosomal recessive: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. The recessive form is more severe than the dominantly inherited form.
• Spondylocostal dysostosis, autosomal recessive 1: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. This form is severe and often results in infant death.
• Spondylocostal dysostosis, autosomal recessive 2: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities resulting in a short trunk and neck as well as long thin fingers.
• Spondylocostal dysplasia dominant: A rare, dominantly inherited syndrome characterized mainly by rib and spine abnormalities.
• Spondyloenchondrodysplasia: A rare genetic disorder where abnormal bone development resluts in symptoms such as flattened spine bones, short stature, large joints and other anomalies. The disorder is also characterized by the development of benign cartilage growths in bones which affects it's growth and strength.
• Spondyloepimetaphyseal dysplasia congenita, Iraqi: A very rare syndrome characterized mainly by abnormal bone growth. Only a few cases have been reported.
• Spondyloepimetaphyseal dysplasia joint laxity: A very rare syndrome characterized by abnormal bone growth involving severe scoliosis and loose joints.
• 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, hypotrichosis: An inherited bone growth disorder characterized by short stature, bone abnormalities and vision problems. An additional feature of this condition is the reduced amount of hair (hypotrichosis). The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue.
• Spondyloepiphyseal dysplasia - nephrotic syndrome: A very rare syndrome characterized by skeletal and immunity abnormalities. The immune defect leads to progressive kidney dysfunction which can ultimately cause death during the first decade.
• Spondyloepiphyseal dysplasia tarda: A rare genetic disorder characterized by short stature and skeletal abnormalities which are usually not apparent before 12 years.
• 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).
• Spondyloepiphyseal dysplasia, congenita: A rare genetic bone growth disorder characterized by prenatal growth deficiency, myopia and short trunk.
• Spondylohypoplasia arthrogryposis popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
• Spondylohypoplasia, arthrogryposis and popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
• Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism: A rare skeletal disorder involving abnormal bone development. The condition is characterized by bowed forearms, abnormal facial appearance, spinal abnormalities and short limbs.
• Spondylometaphyseal dysplasia with combined immunodeficiency: A rare syndrome characterized by skeletal abnormalities as well as a poor immune system.
• 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, 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.
• 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.
• Stiff-Person Syndrome: A very rare progressive neurological disorder involving muscle tightness and painful muscle spasms.
• Stoll-Alembik-Finck syndrome: A very rare syndrome characterized mainly by muscle, skin, sweating, tooth and facial abnormalities.
• Strudwick syndrome: An inherited bone growth disorder characterized by short stature, bone abnormalities and vision problems. The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue.
• Superior mesenteric artery syndrome: A rare condition where the third portion of the duodenum is compressed between two large blood vessels - the aorta and superior mesenteric artery.
• Swollen bone: Enlarged, swollen, or misshapen bones
• Syncamptodactyly - scoliosis: A very rare disorder characterized by the association of a curved spine and partial webbing and permanent flexion of 2nd and 3rd toes.
• 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
• TAU syndrome: A very rare syndrome characterized mainly by reduced blood platelet level and absent ulna bone (forearm bone).
• Taurodontism and disproportionate short stature: A rare syndrome characterized by the association of short stature, a tooth anomaly (taurodontism - large tooth pulp chamber) and vertebral and iliac abnormalities.
• Tel-Hashomer camptodactyly syndrome: A very rare syndrome characterized mainly by finger flexion, facial anomalies, short stature and muscle problems.
• Tethered Spinal Cord Syndrome: Spinal cord condition from abnormally stretched spinal cord.
• Thoracolimb dysplasia, Rivera type: A very rare syndrome characterized mainly by chest and limb abnormalities.
• Tranebjaerg-Svejgaard syndrome: A rare syndrome characterized mainly by mental retardation, seizures and a skin disorder.
• 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.
• Trichodermodysplasia - dental alterations: A rare syndrome characterized mainly by hair, skin and tooth abnormalities.
• Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
• Trigonocephaly - ptosis - coloboma: A rare syndrome characterized by droopy eyelids, brain malformation, a triangular shaped prominent forehead and an eye abnormality.
• Trisomy 12 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 12 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 3 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 3 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 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.
• Tsukuhara syndrome: A very rare syndrome characterized mainly by a curved spine, premature fusion of skull bones and a small head.
• Tuberculosis: Bacterial infection causing nodules forming, most commonly in the lung.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Type I spinal osteoporosis: Spinal osteoporosis is rarely diagnosed until spinal bones have broken. These breaks occur at the weakest points of the spinal column.
• Ulcerative colitis: Ulcerative colitis (Colitis ulcerosa, UC) is a form of inflammatory bowel disease (IBD). Ulcerative colitis is a form of colitis, a disease of the intestine, specifically the large intestine or colon, that includes characteristic ulcers, or open sores, in the colon.
• Ulcerative proctosigmoiditis: Ulcerative proctosigmoiditisis an idiopathic chronicinflammatory disorder limited to the sigmoid colon and the rectum.
• Upton Young syndrome: A syndrome which is characterised by the association of multiple symptoms including mental retardation and multiple nevi
• Urban Roger Meyer syndrome: A syndrome which is characterised by genital anomalies, mental retardation, and obesity
• VACTERL association: A rare syndrome characterized by often severe deformities involving the limbs, kidneys, anus, heart, esophagus and spine.
• VACTERL association with hydrocephaly, X-linked: This condition is characterised by the occurrence of hydrocephalus with VACTERYL syndrome.
• VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
• VACTERYL hydrocephaly: This condition is characterised by the occurrence of hydrocephalus with VACTERYL syndrome.
• 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.
• Venencie Powell Winkelmann syndrome: A congenital condition that is characterised by the occurrence of a number of clinical signs and symptoms
• Verloes Gillerot Fryns syndrome: A syndrome characterised by multiple congenital abnormalities and mental retardation.
• Verloes Van Maldergem Marneffe syndrome: A condition that is characterised by dwarfing skeletal dysplasia.
• Vertebral body fusion overgrowth: A condition that is characterised by increased keratinization of the skin with a x-linked genetic trait
• Vertebral fracture: Any fracture which occurs to the vertebrae of the back
• Vitamin D resistant rickets: A form of rickets that is caused by Vitamin D resistance
• Von Gierke disease IA: A genetic metabolic disorder involving a deficiency of the enzyme glucose-6-phosphatase which results in the accumulation of glycogen in various tissues. G6P is stored as glycogen until the body needs to convert it to a sugar and use it to create energy. The enzyme deficiency prevents the conversion and hence low blood sugar levels result.
• Waaler Aarskog syndrome: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
• Watson syndrome: A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
• Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
• Weismann-Netter-Stuhl Syndrome: A very rare inherited disorder characterized by bone development abnormalities.
• Whiplash: Neck injury often from a car accident.
• Williams Syndrome: A syndrome characterised by mental retardation, facial abnormalities and emotional instability
• Wrinkly skin syndrome: A very rare genetic disorder characterized by wrinkly skin that occurs primarily on the palms and soles but can occur on other parts of the body. The condition is also associated with various other abnormalities.

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