Glossary for Bone symptoms

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

• ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• ALL-Down syndrome: The presence of acute lymphoblastic leukemia in Down syndrome patients. These patients tend to have a poorer prognosis for the leukemia than patients without Down syndrome.
• Abderhalden-Kaufmann-Lignac syndrome: A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea.
• Achalasia - Addisonianism - Alacrimia syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
• Achalasia - addisonianism - alacrima syndrome: A rare inherited disorder characterized mainly by achalasia, alacrimia (absent tears) and Addison's disease. Addison's disease involves adrenal insufficiency due to a resistance to adrenocorticotropic hormone. Only about 70 cases reported worldwide.
• Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an abnormal cartilage matrix. Type 1B is the most severe disorder.
• Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, type 3: Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II.
• Acid phosphatase deficiency: A group of inherited metabolic bone disorders varying in degree of severity and characterized a deficiency of alkaline phosphate which affects bone mineralization.
• Acid-Base Imbalance: A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined by the degree of imbalance.
• Acidosis: The accumulation of hydrogen ions or the depletion of the alkaline reserve in the body.
• Acrocephalopolydactyly - Cardiac Disease - Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
• Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
• Acromegaly: An abnormal enlargement of the limbs due to increased secretion of growth hormone after the cessation of puberty
• Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
• 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.
• Acute cholinergic dysautonomia: A rare condition characterized by the presence of abnormal red blood cells in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
• Acute leukaemia of ambiguous lineage: A term used to describe a type of leukemia (a blood cancer) where the leukemic cells cannot be determined as myeloid or lymphoid or where both types of cells are present.
• Acute lymphoblastic leukemia: A malignant disease that starts suddenly and progresses quickly. It is characterized by a high number of immature cells in the organs, bone marrow and blood. Symptoms include fever, pallor, anorexia, fatigue, anemia, hemorrhage, bone pain, splenomegaly and frequent infections. Also called acute lymphocytic leukemia.
• Acute lymphoblastic leukemia, adult: Cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets.
• Acute lymphocytic leukemia: A malignant disease that starts suddenly and progresses quickly. It is characterized by a high number of immature cells in the organs, bone marrow and blood. Symptoms include fever, pallor, anorexia, fatigue, anemia, hemorrhage, bone pain, splenomegaly and frequent infections. Also called acute lymphoblastic leukemia.
• Acute megacaryoblastic leukemia: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. More specifically, it involves the rapid proliferation of megakaryoblasts (premature form of megakaryocytes).
• Acute myeloblastic leukemia type 1: A form of blood cancer resulting in the rapid proliferation of immature blood cells (blast cells).
• Acute myeloblastic leukemia type 2: A form of blood cancer resulting in the rapid proliferation of granulocytes and monocytes.
• Acute myeloblastic leukemia type 3: A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 3 involves the proliferation of promyelocytes.
• Acute myeloblastic leukemia type 4: A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 4 involves the rapid proliferation of myelocytes and monocytes.
• Acute myeloblastic leukemia type 5: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. Type 5 involves the rapid proliferation of monoblasts (immature precursors of monocytes) in particular.
• Acute myeloblastic leukemia type 6: A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 6 involves the proliferation of the immature precursors of red blood cells called erythroblasts.
• Acute myeloblastic leukemia type 7: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. Type 7 involves the rapid proliferation of megakaryoblasts (premature form of megakaryocytes) in particular.
• Acute myelocytic leukemia: A malignant cancer of blood-forming tissues resulting in a high number of immature leukocytes. Symptoms include soft bleeding gums, anemia, fatigue, fever, dyspnea, moderate splenomegaly, joint and bone pains and frequent infections. Also called acute granulocytic leukemia, acute myelogenous leukemia, acute nonlymphocytic leukemia, myeloid leukemia, splenomedullary leukemia, splenomyelogenous leukemia.
• Acute myeloid leukaemia and myelodysplastic syndromes related to alkylating agent: The use of alkylating agents to treat cancer can result in leukemia in some patients.
• Acute myeloid leukaemia and myelodysplastic syndromes related to topoisomerase type II inhibitor: The use of topoisomerase type II inhibitors to treat cancer can result in leukemia in some patients.
• Acute myeloid leukaemia and myelodysplastic syndromes, therapy related: Certain cancer therapies can result in the development of leukemia in some patients. These therapies includes topoisomerase type II inhibitors and alkylating agents.
• Acute myeloid leukemia: A form of rapidly progressing blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets.
• Acute myeloid leukemia, adult: A form of blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets.
• Acute myelosclerosis: A rare disorder where the bone marrow makes too many blood cells. The disease progresses rapidly with death usually occurring within 6 months of onset.
• Acute promyelocytic leukemia: A rare bone marrow cancer characterized by a lack of mature blood cells and excessive amounts of immature blood cells (promyelocytes).
• Adamantinoma: A very aggressive malignant cancer of the jaw. Also called ameloblastoma, adamantoblastoma or epithelioma adamantinum.
• Adrenal Cancer: A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids. Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal Cortex Diseases: Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue.
• Adrenal Cortex Neoplasms: A tumor that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids.
• Adrenal adenoma, familial: A benign tumor that develops in the adrenal gland and tends to run in families. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids . Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal gland hyperfunction: Excessive activity of the adrenal gland which causes excessive production of one or more adrenal hormones (aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine). The increased adrenal gland activity may be caused by an adrenal gland tumor or by excessive stimulation of the gland. Pituitary hormones stimulate adrenal gland activity.
• Adrenal incidentaloma: A tumor of the adrenal gland that is discovered incidentally while performing an imaging examination for reasons other than an adrenal tumor. The tumor may be asymptomatic or can causes excessive secretion of adrenal hormones and resulting symptoms. The tumor may also be malignant or benign.
• Adrenocortical carcinoma: A condition which is characterized by malignancy which affects the adrenocortex.
• Adult Cystic Fibrosis: Cystic fibrosis is an inherited condition characterized by the production of thick sticky mucus by the mucus glands in the lungs, intestines, liver and pancreas. The condition is most often diagnosed in children or young adults but occasionally, relatively mild symptoms may lead to frequent misdiagnosis or no diagnosis at all unless the symptoms become worse. The condition may be misdiagnosed as emphysema, asthma or chronic bronchitis. It is usually females with a mild form of the disease who tend to be diagnosed at a later age.
• Adult Fibrosarcoma: A malignant tumor that develops from fibroblasts (cells that produce connective tissue) and tends to occur in soft tissue or in areas surrounding bones. Adult fibrosarcoma tends to affect mainly deep soft tissue, trunk, head, neck and upper arms and legs. Symptoms are determined by the size and location of the tumor. The tumors are usually slow growing and can metastasize.
• Adult hypophosphatasia: An rare inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition involves the early loss of primary teeth and childhood rickets followed by a reasonable health until mid-adulthood when dental and skeletal abnormalities again become prevalent.
• Aggressive systemic mastocytosis: The excessive proliferation of mast cells. Mast cells control the skin's response to minor injury and release a chemical called histamine which causes the skin to redden. In the aggressive form, mast cells accumulate in the liver, spleen and lymphatic system.
• 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.
• Albers-Schonberg disease - intermediate 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 intermediate form is more severe than the adult form but less severe than the infantile form. Life expectancy is usually normal.
• Albers-Schonberg disease - malignant recessive 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 malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
• Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
• Allison atrophy: Wasting and loss of minerals in bones that are not used for periods of time. Astronauts have to ensure they do adequate exercise to prevent this condition.
• Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Alpha thalassemia - Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
• Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
• Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
• Aluminium toxicity: High body levels of aluminium resulting in symptoms. Usually occurs in patients with renal impairment.
• Amyloidosis AL: A disease involving the abnormal deposit of amyloid fibrils in virtually any part of the body - the heart, liver, kidney and peripheral and autonomic nerves are most commonly affected. The abnormal amyloid fibrils are produced abnormal plasma cells in the bone marrow. In some cases, the excess growth of abnormal plasma cells can result in a cancerous condition called myeloma resulting in bone pain and infections. A patient with myeloma may develop amyloidosis but it is rare for a patient with AL amyloidosis to go on to develop myeloma.
• Andropause: A symptomatic decline in male androgens that may occur as men age.
• Anemia, Blackfan Diamond: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Aneurysmal bone cysts: A benign tumor-like lump in the bone. Most frequently occurs in the spine and longer bones of the body.
• Angio-osteohypotrophic syndrome: A rare disorder characterized by malformation of the peripheral (usually veins) blood vessels and skeletal abnormalities. The malformed blood vessels cause localized soft tissue swellings and if veins in bones are affected, the bone may degenerate due to an insufficient blood supply. Usually the hands are affected.
• Angiosarcoma: A rare, aggressive malignant tumor of the blood vessel cells. Also called hemangiosarcoma, malignant hemangioendothelioma.
• Anorexia Nervosa: A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases.
• Aplastic anemia: A blood disorder where the bone marrow produces insufficient new blood cells.
• Aromatase deficiency: A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens.
• Arterial occlusive disease, progressive - hypertension - heart defects - bone fragility - brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
• Arthrogryposis: A condition which is characterized by the persistent flexure of a joint
• 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.
• Aseptic osteitis (generic term): A non-infectious inflammation of the bone. Any bone may be affected
• Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
• Aspergillosis: Infection with a fungus called Aspergillus.
• Aural atresia - multiple congenital anomalies - mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
• Autoimmune Lymphoproliferative Syndrome: An inherited autoimmune condition characterized by proliferation of lymphocytes and autoimmunity against the body's own blood cells resulting in premature death of certain blood cells.
• Autoimmune thyroid disease associated Celiac Disease: Patients with autoimmune thyroid disease are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Avascular necrosis: Bone death from lack of circulation.
• Avitaminosis: A group of diseases caused by the deficiency of one or more vitamins e.g. Beriberi (thiamine deficiency), rickets (Vitamin D deficiency), pellagra (niacin deficiency), pernicious anemia (Vitamin B12), bleeding (vitamin K deficiency) and night blindness (avitaminosis A). Symptoms depend on the type and degree of vitamin deficiency. Lack of various vitamins can affect just about every part of the body including the nervous system.
• Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
• Baber's syndrome: A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome.
• Back tumour: The presence of tumour growth in the vertebra, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast.
• Ballard syndrome: A rare condition characterized by enlarged liver and spleen and fractures that occur in areas of weakened bone.
• Bartenwerfer syndrome: A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease.
• Bartter Syndrome: A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels.
• Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
• Bartters syndrome, antenatal , type 2: A rare genetic kidney disorder that causes hypokalemia. A defect in the ROMK gene impairs the ATP-regulated potassium channel functioning and leads to electrolyte imbalance.
• 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.
• Bed sores: An ulceration due to an arterial occlusion or prolonged pressure
• Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
• Bessel-Hagen disease: A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones.
• Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (? and ?) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
• Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Bile acid synthesis defect, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
• Bile acid synthesis defect, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Bile acid synthesis defects: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Bile acid synthesis defects, congenital, 1: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (3-beta-hydroxy-delta-5-C27-steroid oxidoreductase) needed to make bile acid.
• Bile acid synthesis defects, congenital, 2: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect is a deficiency of a particular enzyme (cholestasis with delta(4)-3-oxosteroid 5-beta-reductase) needed to make bile acid.
• Bile acid synthesis defects, congenital, 3: A defect which prevents the body from making bile acid which results in progressive liver disease. The defect involved a deficiency of 7-alpha-hydroxylase which is an enzyme needed to prevent the accumulation of 27-hydroxycholesterol which is toxic to the liver.
• Bile acid synthesis defects, congenital, 4: A defect which prevents the body from making bile acid which results in progressive liver disease.
• Biliary cirrhosis: Biliary cirrhosis is a condition where the bile ducts are unable to transport bile effectively due to blockage, inflammation, scarring or some other damage to the bile ducts. The condition may result from such things as congenital defect of the bile ducts (e.g. biliary atresia), cystic fibrosis, gallstones or a variety of other secondary conditions. The cause of primary biliary cirrhosis is not fully understood.
• Blast crisis: The final phase of chronic myeloid leukemia which has a high mortality rate. Myeloid leukemia is a form of cancer where the bone marrow makes too many myeloid cells (granulocytes and their precursors) in the bone marrow which accumulates in the blood and eventually invades various parts of the body. The three phases of the condition are the chronic phase, aggressive phase and finally the blast crisis. A blast crisis is occurs when over 30% of the cells in the blood or bone marrow are immature blood cells (blast cells). Patients in the final stage of leukemia are more prone to relapses following treatment.
• Blood cancer: Malignancy of one or several of the different types of cells in the blood
• Bone changes: Changes to the bones as a symptom
• Bone dysplasia - corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
• Bone dysplasia Azouz type: A rare disorder involving abnormal bone development characterized by a flattened spine and abnormal benign cartilage growths whitin bones which affects it's growth and strength.
• Bone dysplasia with medullary fibrosarcoma: A rare inherited bone disorder characterized by aggressive bone tumors and defective bone development. The tumors metastasized readily.
• Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
• Bone growth suppression: A condition which is characterized by the suppression of bone growth in an individual
• Bone loss: A condition which is characterized by the loss of the amount of bone in ones body particular its density
• Bone pain: Pain affecting the bones
• Bone swelling: A swelling of the bone
• Bone symptoms: Symptoms affecting the body's bones
• Bone thinning: A condition which is characterized by the thinning of the bones of ones body
• Boomerang dysplasia: A rare lethal disorder characterized by bone abnormalities (lack of bone ossification and missing bones) and a characteristic face.
• Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
• Boyd-Stearns syndrome: A rare syndrome associated with various metabolic disorders such as glycosuria, acidosis, albuminuria and hypochloremia. Symptoms include rickets during infancy, short stature, low blood phosphate levels, malnutrition and osteoporosis.
• Brachydactylous dwarfism, Mseleni type: A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. The condition can eventually lead to disability and hip and/or knee replacements in serious cases.
• Brachydactyly - tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
• Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism.
• Brain - bone - fat: A rare inherited disease characterized by bone cysts and progressive presenile dementia.
• Breast Duct Papilloma: Tumour of the collecting duct of the breast; may be benign or malignant.
• Brittle bone syndrome lethal type: A rare form of brittle bone disease caused by abnormal collagen production which results in weak bones which break easily. The condition can result in death, especially during the process of birth which can result in multiple severe fractures.
• Broberger-Zetterström syndrome: A type of chronic bone abscess where a infected bone forms a pus-filled cavity. The abscess may cause no symptoms for many years.
• Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
• Brown-Sequard Syndrome: A disorder where spinal cord compression and lesions involve only half of the spinal cord.
• Bruck syndrome: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin.
• Bruck syndrome 1: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth.
• Bruck syndrome, 2: A very rare syndrome characterized primarily by limited joint extension (congenital contractures), weak fragile bones and webbed skin at elbows and knees.
• Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
• CDG syndrome type 4: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 4 is caused by a genetic defect which involves the gene for a particular enzyme (dolichyl-P-mannose:Man-5-GlcNAc-2-PP-dolichyl-mannosyltransferase).
• CDG syndrome type I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
• $CRMO, juvenile$: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
• Calvarial doughnut lesions - bone fragility: A rare disorder characterized by a number of doughnut shaped lesions on the skull which makes the skull lumpy. Weak bones resulting in fractures without trauma and dental decay are also features of this disorder.
• Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
• Campylobacter sputorum infection: A bacterial infection that involves bacteria from the Campylobacter family. It tends to cause gastrointestinal symptoms.
• 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.
• Cantu Sanchez-Corona Garcia-cruz syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
• Cantú syndrome: A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage
• Cartilaginous neoplasms: Tumors made up of cartilage tissue. The tumors may be benign or malignant and the symptoms will depend on the location and size of the tumors. The tumors can form on parts of the body such as the arm and leg bones or even in the pharynx. The tumors may cause no symptoms in some cases and are only discovered incidentally.
• Celiac Disease: Digestive intolerance to gluten in the diet.
• Celiac disease, susceptibility to 1: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6p21.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 10: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q25-q26. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 11: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q28. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 12: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6q25.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 13: The susceptibility to developing celiac disease due to a genetic defect in the SH2B3 gene on chromosome 12q24. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 2: The susceptibility to developing celiac disease due to a genetic defect on chromosome 5q31-q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 3: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 4: The susceptibility to developing celiac disease due to a genetic defect on chromosome 19p13.1. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 5: The susceptibility to developing celiac disease due to a genetic defect on chromosome 15q11-q13. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 6: The susceptibility to developing celiac disease due to a genetic defect on chromosome 4q27. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 7: The susceptibility to developing celiac disease due to a genetic defect on chromosome 1q31. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 8: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q11-q12. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 9: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3p21. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Cellulitis: inflammation of the subcutaneous fat
• Cerebellar hypoplasia - endosteal sclerosis: A rare disorder character where a part of the brain (cerebellum) is underdeveloped and abnormally increased bone density (endosteal sclerosis).
• Cerebro-oculo-dento-auriculo-skeletal syndrome: A very rare syndrome characterized by abnormalities of the brain, eyes, teeth, ears and skeleton.
• Cerebrotendinous Xanthomatosus: A rare syndrome where a genetic mutation results in a metabolic disorders caused by a deficiency of sterol 27-hydroxylase deficiency. The condition causes progressive neurological dysfunction, cataracts and premature atherosclerosis. Deposits of cholesterol and cholestanol can be found in any part of the body including the brain. The rate of progression and severity of symptoms varying amongst patients. The degree of neurological involvement is also variable.
• Cervical cancer: A condition which is characterized by the occurrence of malignancy on the cervix
• Chemical poisoning - Aluminum: Aluminum is a chemical used mainly for metallurgical purposes and can be found in packaging, electrical parts, vehicles, cooking utensils, construction materials and building components. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Ammonium Bifluoride: Ammonium Bifluoride is a chemical used wheel cleaners, herbicides and in the manufacture of magnesium. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Hydrogen Fluoride: Hydrogen Fluoride is a chemical used mainly in car cleaning products and in the production of integrated circuits. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Radium: Radium is a chemical used mainly as an anti-cancer agent . Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - White Phosphorus: White Phosphorus is a chemical used mainly in fertilizers, water treatment, rodenticides and insecticides (for cockroaches). Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chest expansion, asymmetrical: The asymmetrical expansion of the chest wall during respiration
• Childhood hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate which results in loss of deciduous teeth before the age of 5 as well as muscle and bone problems - childhood onset.
• Chitty-Hall-Webb syndrome: A very rare syndrome characterized mainly by fractures, bowed shin bones, abnormal forearm bone (radius) and reduced bone mass.
• Cholestasis: A condition where bile formation or flow is reduced.
• Chondroblastoma (benign): A rare benign bone tumor that usually forms in the ends of long bones such as the leg bones.
• Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Chondrodystrophy: A condition where cartilage is converted to bone resulting in dwarfism with normal size trunk but shortened limbs and extremeties.
• Chondromatosis (benign): Benign cartilage growths that can occur in various parts of the body. Symptoms are determined by the size and exact location of the growth. For example, a spinal chondroma can result in compression of the spinal cord.
• Chondrosarcoma (malignant): A form of bone cancer that originates from cartilage tissue. The most common areas affected are the pelvic bones, femur, humerus, arm, spine and ribs
• Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
• Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
• Chromosome 21 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 21 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
• Chronic Granulomatous Disease: A very rare inherited blood disorder where certain cells involved with immunity (phagocytes) are unable to destroy bacteria and hence the patient suffers repeated bacterial infections.
• Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
• Chronic Myeloproliferative Disease, Unclassified: A form of blood disorder characterized by the abnormal proliferation of myeloid precursors in the bone marrow. This category refers to cases of myeloproliferative disease which don't fit into any of the other specific type of myelproliferative diseases.
• Chronic Myeloproliferative Disorders: A group of blood cancers where excessive numbers of blood cells are made by overactive or cancerous bone marrow. The number of excess blood cells tends to grow slowly. Examples of such disorders includes chronic myelogenous leukemia, polycythemia vera and essential thrombocythemia. The symptoms are determined by which particular blood cancer is involved.
• Chronic myelogenous leukemia: A slow-growing cancer of the white blood cells where the bone marrow makes too many white blood cells which eventually invade various parts of the body.
• Chronic myelomonocytic leukemia: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of certain blood cells - myelocytes and monocytes. The proliferation is slower than in acute forms of the disease.
• Chronic recurrent multifocal osteomyelitis: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
• Chronic vitamin A toxicity: Chronic excessive ingestion of vitamin A can cause symptoms.
• Classic Distal Renal Tubular Acidosis: A condition which is characterized by the formation of an acidosis due to a problem with the renal distal tubule
• Coccidioidomycosis: An infectious fungal disease caused by inhaling the spores of a particular bacteria. Also called desert fever, desert rheumatism, San Joaquin fever and valley fever.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• 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.
• Collagenous celiac disease: Collagenous celiac disease is used to describe progressive celiac disease characterized by the presence of a layer of collagen (scarring) in the intestinal layers. This form of celiac disease usually fails to respond to treatments such as gluten-free diets. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The condition usually fails to respond to treatment and has a poor prognosis.
• Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Connective tissue disorders: Any condition affecting connective tissues.
• Copper deficiency, familial benign: A rare inherited copper deficiency. Copper has many functions in the body including heart function, cholesterol metabolism, brain development, immune defenses, blood supply, glucose metabolism and normal bone development.
• Crepitus: A grinding sound made by the movement of 2 rough surfaces of bone over one another.
• Crohn's disease: Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. The disease can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum.
• Cushing syndrome, familial: A hormonal disorder caused by high levels of the cortisol hormone due to the abnormal development of the adrenal gland.
• Cushing-like symptoms: Symptoms similar to those of Cushing's disease
• Cutis laxa - osteoporosis: A very rare disorder characterized mainly by loose skin and osteoporosis. The bones are so weak they fracture easily during infancy and can result in bone deformity.
• 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.
• Cytomegalic Inclusion Body Disease: An infection due to cytomegalovirus and marked by nuclear inclusion bodies in enlarged infected cells
• Cytosine arabinose syndrome: Symptoms following the use of a chemotherapy drug called cytosine arabinose.
• Davis syndrome: A very rare condition where short-limbed dwarfism is associated with immunodeficiency.
• Deafness - lymphoedema - leukemia: A rare syndrome characterized by deafness, early-onset leukemia and lymphoedema in the lower legs.
• Deafness - skeletal dysplasia - lip granuloma: A very rare syndrome characterized mainly by deafness, skeletal abnormalities, mental retardation and full lips.
• Deafness conductive - ptosis - skeletal anomalies: A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities.
• Deficiency-induced osteoporosis: Bone loss has been linked to minerals, drugs and endocrine disorders and hence the term deficiency induced osteoporosis is a very generalised broad term which links together minerals, drugs and other diseases induced osteoporosis.
• Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
• Dennis-Fairhurst-Moore syndrome: A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair.
• Dent syndrome: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction.
• Dent's disease: A rare kidney disease inherited in a X-linked manner. It involves kidney tubule damage which results in progressive kidney dysfunction. There are two types of Dent's disease and they differ in the origin of the genetic defect.
• Dent-Friedman syndrome: A rare form of osteoporosis that occurs in children and adolescents and no cause can be determined.
• Dentinogenesis imperfecta, type I: A rare inherited condition which occurs in people suffering from osteogenesis imperfecta (brittle bone disease) and is characterized by tooth structure abnormalities.
• Deposition diseases related fibromyalgia: Deposition diseases related fibromyalgia refers to fibromyalgia that is associated with deposition diseases. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Deposition diseases involve the abnormal deposit of material in parts of the body such as the joints e.g. gout.
• Di Guglielmo I - acute: A rare condition characterized by the presence of abnormal red blood cells in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
• Dialysis-related amyloidosis: Amyloidosis (protein deposits) from kidney dialysis treatment.
• Diamond-Blackfan anemia: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Diaphyseal aclasis: A rare inherited bone development abnormality where excessive bone growths form on developing bones. The bony projections can affect surrounding tissue such as nerves and cause further symptoms. The disorder carries the risk of developing chondrosarcoma which is a type of bone cancer.
• Diaphyseal medullary stenosis with malignant fibrous histiocytoma: A rare form of inherited bone cancer which tends to develop malignant changes. The condition has been observed in only a few families worldwide.
• Dibasic aminoaciduria 2: A rare condition where protein intolerance occurs as a result of a defect in the transport of dibasic amino acids through the intestines and kidneys. The amino acids (component of protein) can't be broken down properly and used by the body so it builds up and causes damage.
• Disseminated infection with mycobacterium avium complex: Mycobacterium avium complex is an opportunistic bacterium which tends to occur mainly in patients with advanced AIDS. The infection can spread throughout the body and result in such things as blood infections.
• Disuse osteoporosis: Disuse osteoporosis is defined as localized or generalized bone loss resulting from reduction of mechanical stress on bones.
• Down's syndrome associated Celiac Disease: Patients with Down's syndrome have a high degree of susceptibility to developing celiac disease. Up to 17% of Down's syndrome sufferers develop celiac disease but this rate varies amongst age groups and country of origin. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Drug-induced osteoporosis: Drug induced osteoporosis is both preventable and treatable.
• Dwarfism: An abnormally short individual
• Dwarfism - thin bones - multiple fractures: A rare form of dwarfism characterized by short stature as well as thin bones that are prone to fractures.
• Dysharmonic skeletal maturation - muscular fiber disproportion: A very rare syndrome characterized mainly by abnormal bone development and muscle problems.
• Dyskeratosis Congenita: A rare genetic disorder characterized by sking pigmentation abnormalities, nail dystrophy and mucous membrane changes.
• Ear, patella, short stature syndrome: A very rare inherited disorder abnormalities of the inner and outer ear structures, missing kneecap and short stature as well as other physical and developmental abnormalities.
• Eating symptoms: Symptoms related to eating.
• 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.
• Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
• Ehlers-Danlos syndrome, arthrochalasic type: A rare genetic connective tissue disorder characterized by hyperextensible and fragile skin and hypermobile joints which leads to dislocations, osteoarthritis and fractures - previously known as EDS types 7A and 7B.
• Ehlers-Danlos syndrome, progeroid form: A connective tissue disorder caused by an enzyme (xylosylprotein 4-beta-galactosyl transferase) deficiency.
• Ehlers-Danlos syndrome, tenascin-X deficiency: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility.
• Eikenella corrodens infection: A type of anaerobic bacterial infection. The bacterium (Eikenella corrodens) is normally found in tooth plaque and can cause infection in various parts of the body. It tends to occur in patients with head and neck cancers or diabetics and drug users who lick their needles. Symptoms will depend on the location of the infection.
• Electrical burns: Burns caused when an electric current pass through the body or part of it. The symptoms and severity of the burn depends on the strength of the electrical current, the duration of the exposure and the part of the body involved. Prompt treatment in more severe cases can improve the prognosis.
• Elephant man in context of NF: A rare disorder where a limb becomes enlarged due to neurofibromatosis of the skin and the tissue under it. Neurofibromatosis is a disorder involving the development of benign nerve and skin tumors. When large areas of nerves are affected in one limb then the limb becomes enlarged.
• 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.
• Empty Sella Syndrome: Congenital defect of the brain.
• Enchondromatosis (benign): Benign cartilage growths that develop inside bones.
• Enchondromatosis-dwarfism-deafness: A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development.
• Endometrial Cancer: Cancer of the endometrium (uterus lining).
• Eosinophilic granuloma: A fairly benign form of bone tumor.
• Epidermal nevus - vitamin D resistant rickets: A rare syndrome characterized mainly by the presence of birth marks on the skin, bone abnormalities and mental retardation.
• Epidermoid carcinoma: A non-small-cell type of lung cancer. The cancer develops from cells that line the inside of the lungs.
• Epilepsy - microcephaly - skeletal dysplasia: A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities.
• Epstein Barr virus related fibromyalgia: Epstein Barr virus related fibromyalgia refers to fibromyalgia that is associated with infection with the Epstein Barr virus. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues.
• Erdheim-Chester syndrome: A very rare lipid storage disorder involving lipid deposits in various organs and hardening of the ends of long bones which affects the growth of the bone. The severity of the condition is variable.
• Esophagus symptoms: Symptoms affecting the esophagus (digestive throat passage)
• Ewing's family of tumors: A rare condition where tumors develop in bone or soft tissue. Usually teenagers are affected.
• Ewing's sarcoma: Ewing's sarcoma is a malignant round-cell tumor. It is a rare disease in which cancer cells are found in the bone or in soft tissue. The most common areas in which it occurs are the pelvis, the femur, the humerus, and the ribs.
• Excessive dieting: Excessive limitation of food intake can lead to problems and effects such as dizziness, depression, intestinal problems, edema and impaired growth.
• Exostoses: Development of non-cancerous bony growths on bones. Pain can result depending on the size and location of the growth.
• Exostoses, multiple: A rare genetic disorder characterized mainly by limb deformities and other skeletal abnormalities caused primarily by a disorder of the bone growth plates.
• Exostoses, multiple, type 1: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type I differs from type II and III in the location of the genetic defect that causes the disorder. Type I tends to involve more bone growths and shorter arm and leg bones.
• Exostoses, multiple, type 2: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type II differs from type I and III in the location of the genetic defect that causes the disorder. Type I tends to be less severe than type I.
• Exostoses, multiple, type 3: Multiple extoses is a rare condition involving abnormal bone growths that occurs on bones. Type II differs from type I and III in the location of the genetic defect that causes the disorder. Type I tends to be less severe than type I.
• Facial dysmorphism - intellectual deficit - short stature - hearing loss: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
• Falls: Recurrent unintentional falls
• Familial hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood. The disorder tends to run in families (familial).
• Fanconi like syndrome: A rare condition characterized by a poor immune system, skin tumors and a reduced number of all type of blood cells.
• Fanconi renotubular syndrome: A condition where the kidneys are unable to reabsorb glucose and amino acids and hence they are excreted in the urine. The condition may be inherited or occur as a result of heavy metal toxicity, malignancy and myeloma.
• Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
• Fanconi-Albertini-Zellweger syndrome: A rare syndrome characterized mainly by congenital heart defect, brain abnormalities, unusual face and metabolic acidosis.
• Fanconi-ichthyosis-dysmorphism: A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months.
• Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.
• Fibrochondrogenesis: A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
• Fibromatosis multiple non ossifying: A very rare syndrome characterized mainly by bone abnormalities which causes the bones to fracture easily.
• Fibromyalgia: A difficult to diagnose condition affecting the muscles and/or joints
• Fibrous Dysplasia: A rare condition where fibrous tissues develops instead of normal bone tissue. One or more bones may be affected and bones in the legs, head and chest are the usual ones affected.
• 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.
• Fibular hypoplasia or aplasia - femoral bowing - oligodactyly: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Fontaine-Farriaux-Blanckaert syndrome: A rare syndrome characterized by premature fusion of skull bones as well as various other abnormalities.
• Fractures: Breakage of bones
• Fraser-Jequier-Chen syndrome: A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis).
• Fuhrmann-Rieger-de Sousa syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
• Functioning pancreatic endocrine tumor: Tumors that develop in the pancreas and cause excessive secretion of one or more pancreatic hormones such as insulin, somatostatin, glucagons, gastrin, ACTH (corticosteroids) and vasoactive intestinal peptidase.
• Galactorrhoea-Hyperprolactinaemia: Increased blood prolactin levels associated with galactorrhea (abnormal milk secretion). It may be caused by such things as certain medications, pituitary disorders and thyroid disorders. The condition can occur in males as well as females.
• Gaucher Disease: 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.
• Gaucher disease type 1: 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 1 is the visceral, chronic form which usually starts during adulthood.
• Gaucher disease type 2: 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 2 is acute neurological form apparent in infancy.
• 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.
• Gaucher-like disease: A very rare inherited condition where the body's inability to bread down a certain fat (glucocerebroside) causes it to accumulate in body tissues and organs where it can cause damage. Gaucher-like disease is a sub-type of Gaucher disease which primarily affects the heart.
• Generalised musculoskeletal pain: Generalised aches and pains over the body.
• 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.
• Global developmental delay - osteopenia - ectodermal defect: A rare syndrome characterized by developmental delay, osteopenia and skin anomalies.
• Glomerulonephritis: A condition which affects the kidneys and is characterized by inflammatory changes that occur in the glomeruli
• Gnathodiaphyseal dysplasia: A rare genetic disorder affecting the skeleton and characterized by fragile bones, bowed long bones and recurring infections of the jaw bone.
• Gonadal dysgenesis: The abnormal development of gonads which means that the sex hormones are not being produced. The gonads are the primary reproductive organs - testes in males and ovaries in females. These organs produced sperm and eggs as well as sex hormones - testes produce the male hormone called testosterone and ovaries produce the female hormone called estrogen. Abnormal gonad development and hence lack of sex hormones can affect sexual differentiation between males and females and puberty may be delayed or fail to occur altogether.
• Gorham's syndrome: A very rare bone disorder involving bone loss which can occur in one or more bones.
• Gracile bone dysplasia: An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities.
• Grange syndrome: A rare syndrome characterized by the abnormal narrowing of various arteries, high blood pressure, heart defects, fragile bones and short, webbed digits. The congenital heart defects are not present in all cases.
• Grix-Blankenship-Peterson syndrome: A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities.
• Group A Streptococcal Infections: "Strep" bacteria responsible for strep throat, impetigo and some other strep conditions.
• Growth Hormone Receptor Deficiency: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Growth plate injuries: Injury to the growing ends of young bones.
• Gurrieri-Sammito-Bellussi syndrome: A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities.
• HEM dysplasia: A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death.
• Haferkamp syndrome: A severe lymphatic malformation syndrome involving multiple hemangiomas and gradual spontaneous bone resorption. It is a severe generalized form of Gorham syndrome which is a lymphatic malformation syndrome involving the bone.
• Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
• Hand-Schüller-Christian Syndrome: A group of blood disorder involving excess production of histiocytes (type of immune cell) throughout the body. Accumulation of histiocytes results in non-cancerous growths which can damage organs and other body tissues such as bones. Symptom vary hugely and depend on location and size of tumor growths.
• Hapnes-Boman-Skeie syndrome: A rare disorder where the abnormal attachment of tendons in the fingers prevents them from opening and closing normally.
• Hemoglobin C Thalassemia: A rare genetic blood disorder that can cause mild hemolytic anemia but is asymptomatic in most patients.
• Hemophilia B: A rare coagulation disorder caused by a deficiency of factor IX which results in bleeding problems.
• Herbal Agent overdose - Reishi mushroom: Reishi mushroom can be used as a herbal agent to improve the immune system and to prevent cancer. The herbal agent can cause various symptoms if excessive quantities are taken.
• Hereditary primary Fanconi disease: A rare inherited disorder characterized by defective reabsorption of various substances such as phosphate, potassium, amino acids and glucose which manifests as a wide range of abnormalities and problems.
• Hip Replacement: The replacement of a hip with an synthetic joint
• Hip cancer: The presence of tumour growth in the bone of the hip, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast; cancer affecting bone of hip likely to affect other bones e.g. vertebra, ribs
• Hodgkin's Disease: A form of cancer that affects the lymphatic system.
• Hodgkin's disease, adult: A type of cancer that affects the lymphatic system in adults. The lymphatic system forms part of the body's immune system. This type of cancer can also occur in children.
• Hodgkin's disease, childhood: A type of cancer that affects the lymphatic system in children. The lymphatic system forms part of the body's immune system. This type of cancer can also occur in children.
• Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
• Homocystinuria due to cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations.
• Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
• Hutchinson Gilford Syndrome: A rare genetic disorder characterized by alopecia and senile-like appearance.
• Hutterite cerebroosteonephrodysplasia syndrome: A very rare disorder characterized by short stature and a severe degenerative brain disorder.
• Hyalinosis, infantile systemic: A rare genetic disorder involving abnormal deposits of hyaline throughout various body tissues. Manifestations include progressive joint contractures, skin abnormalities and pain.
• Hyper IgE: Inherited immunodeficiency disorders involving excessive production of IgE and frequent bacterial (staphylococcal) infections mainly involving the skin as well as other problems. Recessively inherited forms of the condition tend to be more serious with bone problems.
• Hyper-IgE Syndrome: A condition characterized by an excess of immunoglobulin E
• Hyperadrenalism: Excessive levels of adrenal hormones in the body. Symptoms depend on which hormone is involved and the degree of involvement. Adrenal hormones are aldosterone, corticosteroids, androgenic steroids, epinephrine and norepinephrine.
• Hyperdibasic aminoaciduria type 2: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter).
• Hyperglycerolemia, infantile form: A genetic condition where an enzyme deficiency (glycerol kinase) results in an accumulation of glycerol in the body as well as it's excretion through the urine. The infantile form of the condition involves a deficiency of complex glycerol kinase and is associated with a variety of physical and developmental abnormalities.
• Hyperhomocysteinemia: Excessive homocysteine levels in blood. It is often associated with folate or cobalamin deficiency as well as genetic defects. Severity of symptoms is determined by how high the homocysteine levels are. Sufferers are generally asymptomatic until the onset of premature arterial disease later in life. Other symptoms such as mental retardation only occur in severe cases where the homocysteine levels are extremely high.
• Hyperostosis cortical infantile: A rare inflammatory disorder that affects bones and soft tissue in infants. The condition may affect virtually any bone and causes excessive enlargement of part of the bone (cortex). Infant feeding problems may occur if the jaw bone is affected which can affect weight gain. The inflammatory course of the disease eventually stops and over time the bones remodel to a normal appearance.
• Hyperostosis-hyperphosphatemia syndrome: A rare disorder characterized by the development of painful, recurring swellings on the long bones. The swellings are transient.
• Hyperparathyroidism: Increased secretion of parathyroid hormone from the parathyroid glands.
• Hyperparathyroidism, primary: A rare genetic disorder where excessive activity of the parathyroid gland causes increased blood calcium levels which can cause various problems.
• Hyperprolactinemia: High levels of prolactin in the blood.
• Hypertrichotic osteochondrodysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
• Hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood.
• Hypogonadotropic hypogonadism - syndactyly: A very rare syndrome characterized mainly by webbed toes and reduced gonad function.
• Hypophosphatasia: A rare genetic disorder characterized by short limbs, dwarfism and general lack of bone calcification.
• Hypophosphatemia, Familial: An inherited disorder involving low blood phosphate levels due to problems with the transport of phosphate and problems with vitamin D metabolism. Vitamin D and phosphates are not properly absorbed from the kidneys which can lead to bone problems if not treated.
• Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.
• Hypoplasia of the tibia with polydactyly: A very rare syndrome characterized mainly by an extra little finger and toe as well as an underdeveloped shin bone.
• Hypothalamic hamartomas: A benign congenital tumor that develops on or near the hypothalamus.
• Idiopathic osteoporosis: Idiopathic osteoporosis is a rare type of osteoporosis.This type of osteoporosis occurs in children and young adults who have normal hormone levels, normal vitamin levels, and no obvious reason to have weak bones.
• Immunodeficiency with short limb dwarfism: A very rare condition where short-limbed dwarfism is associated with immunodeficiency.
• Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
• Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia: An inherited muscle wasting disorder associated with dementia and bone disease.
• Infantile Fibrosarcoma: A tumor that develops from fibroblasts (cells that produce connective tissue) and tends to occur in soft tissue or in areas surrounding bones. Juvenile fibrosarcoma tends to have a much better prognosis compared to adult fibrosarcoma.
• Infantile hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition becomes noticeably during infancy and involves a period of normal development (about 6 months) followed by deterioration due to bone demineralization.
• Infantile multisystem inflammatory disease: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Infantile myofibromatosis: A benign fibrous tumor that usually occurs in children or infants. The tumor is not cancerous but the location and size of the tumor can cause problems and even death in some cases if certain organs are involved. Tumors can occur in the skin, muscle, internal organs and bone.
• Infantile recurrent chronic multifocal osteomyolitis: A rare disorder characterized by recurring periods of inflammation. The cause is undetermined and tends to affect mostly children. It is often associated with certain autoimmune diseases such as psoriasis and Wegener's granulomatosis.
• Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
• 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.
• Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
• Invasive candidiasis: Severe fungal infection usually in immunocompromised persons
• Iridogoniodysgenesis and skeletal anomalies: A rare syndrome characterized by skeletal anomalies, congenital glaucoma and an unusual facial appearance.
• Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• 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.
• Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
• Job syndrome: An immunodeficiency disorder characterized by excessive production of IgE and frequent bacterial infections mainly involving the skin.
• Juvenile Paget disease: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
• Juvenile hyaline fibromatosis: A rare inherited disease involving tumor-like deposits of a substance called hyaline in body tissues such as skin, gums, joints and bones. Hyalin is a collagen-like substance made by cells in the connective tissue.
• 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).
• Kaler-Garrity-Stern syndrome: A very rare syndrome characterized mainly by osteopenia, mental retardation and sparse hair.
• Kidney conditions: Any condition affecting the kidney organs.
• Kidney symptoms: Symptoms affecting one or both kidneys.
• Klinefelter syndrome, variants: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division.
• Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
• Koller syndrome: A rare syndrome involving thickened bones and dry skin with characteristic fish-like scales.
• Lactotroph adenoma: A benign pituitary tumor that secretes excessive prolactin which can affect the functioning of the reproductive system - testes and ovaries. The tumor may also grow large enough to compress adjacent structures such as the eye nerves.
• Langerhans Cell Histiocytosis: A condition which is characterized by proliferation of Langerhans cells
• Large cell carcinoma: Large cell carcinoma is the uncontrolled growth of abnormal cells in the lungs. This non-small cell lung cancer that represents 10% to 20% of all tumors that start in the bronchi, which are the main branches of the trachea that lead to the lungs.
• Laron Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Pituitary Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Type Pituitary Dwarfism 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron-type Dwarfism Phenotypic Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Larsen syndrome, recessive type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
• Larsen-like osseous dysplasia - dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
• Lawrence-Seip syndrome: Lawrence-Seip syndrome is a relatively uncommon condition involving generalized loss of skin fat that is acquired rather than congenital as in Berardinelli-Seip Syndrome. Patients can also develop diabetes mellitus and other problems. The loss of skin fat tends to occur during childhood or adolescence and is often triggered by infections such as measles and hepatitis. The diabetes tends to occur after fat loss begins. The limbs and face tend to be the most affected.
• Leishmaniasis: A rare infectious disease caused by any of a number of parasitic Leishmania species. Infection can cause any of three different manifestations: cutaneous leishmaniasis, mucosal leishmaniasis and visceral leishmaniasis.
• Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
• Lethal chondrodysplasia, Seller type: A very rare lethal syndrome characterized mainly by angulated long bones and variation in bone density throughout the body.
• Lethal congenital contracture syndrome (LCCS): A rare inherited lethal disorder characterized by multiple congenital contractures. There are two main types caused by different genetic defects. Type 2 differs from type 1 in that it includes additional head, face and eye symptoms and hydrops, joint webbing and fractures were usually absent.
• Lethal congenital contracture syndrome 1: A rare inherited lethal disorder characterized by multiple congenital contractures. Type 1 occurs as a result of a genetic defect on chromosome 9q34.
• Leukemia: Cancer of the blood cells, usually white blood cells.
• Leukemia, Lymphocytic, Acute, L1: Acute lymphocytic leukemia is a cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are three main subtypes (L1, L2 and L3) which are differentiated by the appearance of the cancerous cells: L1 is characterized by small, uniform cancer cells with a round nucleus and very little cytoplasm. L1 has a better prognosis than L2. L1 is the main form in children (about 85%) but is less common in adults (about 30%).
• Leukemia, Lymphocytic, Acute, L2: Acute lymphocytic leukemia is a cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are three main subtypes (L1, L2 and L3) which are differentiated by the appearance of the cancerous cells: L2 is characterized by larger cells, an irregular-shaped nucleus, more cytoplasm and significant variation between cells. L2 has a poorer prognosis than L1. L2 is the main form in adults (about 65%) but is less common in children (about 15%).
• Leukemia, Lymphocytic, Acute, L3: Acute lymphocytic leukemia is a relatively aggressive cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are three main subtypes (L1, L2 and L3) which are differentiated by the appearance of the cancerous cells. L3 is quite uncommon but is very similar to Burkitt's lymphoma - in fact, they may be considered the same disease with different manifestations.
• Leukemia, Monocytic, Acute: A cancer of the blood-forming tissues of the bone marrow involving the proliferation of a type of infection-fighting white blood cell called a monocyte. Acute leukemia involves a more rapid proliferation of cancer cells compared to chronic forms of leukemia.
• Leukemia, Myeloid: A form of blood cancer that causes a proliferation of the precursors or immature red blood cells, platelets and certain white blood cells such as granulocytes and monocytes.
• Leukemia, Myeloid, Aggressive-Phase: Myeloid leukemia is a form of cancer where the bone marrow makes too many myeloid cells (granulocytes and their precursors) in the bone marrow which accumulates in the blood and eventually invades various parts of the body. The aggressive phase of myeloid leukemia follows the chronic form and is a sign that the condition is progressing more rapidly to a blast crisis which is the final stage of leukemia.
• Leukemia, Myeloid, Chronic: A slow-growing cancer where the bone marrow makes too many myeloid cells (granulocytes and their precursors) in the bone marrow which accumulates in the blood and eventually invades various parts of the body.
• Leukemia, Myeloid, Philadelphia-Negative: Acute lymphocytic leukemia is a relatively aggressive cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. The Philadelphia negative form of the condition is not associated with a genetic mutation. It is distinguished from the positive form by the clinical course which is initially the same but progresses to eventual bone marrow failure without a distinct increase in blast cells. Other differences include poor response to chemotherapy, lower white blood cell counts, greater monocytosis, less basophilia, lower bone marrow myeloid to erythroid ratio and increased likelihood of developing thrombocytopenia. Philadelphia negative patients also tend to be older and median survival rates tend to be poorer.
• Leukemia, Myeloid, Philadelphia-Positive: Acute lymphocytic leukemia is a relatively aggressive cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. The Philadelphia form of myeloid leukemia carries the poorest prognosis of all the different types. It involves an acquired genetic mutation which results in the production tyrosine kinase which causes too many white blood cells to be produced which results in a shortage of other blood cell types. Treatment is aimed at inhibiting the production of tyrosine kinase.
• Leukemia, T-Cell: A form of blood cancer characterized by the proliferation of cancerous T-cells which make up part of the body's immune system. The exact symptoms and progression vary depending on the subtype involved.
• Leukemia, T-Cell, Acute: A form of blood cancer characterized by the proliferation of cancerous T-cells which make up part of the body's immune system. The exact symptoms and progression vary depending on the subtype involved. The acute form involves a rapid proliferation of cancerous T-cells and hence a more rapid disease progression and increased severity of symptoms.
• Leukemia, mast-cell: A very aggressive form of leukemia - a subtype of acute myeloid leukemia. The cancer can in rare cases develop from chronic myeloid leukemia or systemic mastocytosis but generally develops on its own.
• Lichstenstein syndrome: A rare syndrome characterized mainly by frequent infections, osteoporosis, weak bones and other bone abnormalities.
• Lightwood-Albright syndrome: A rare syndrome caused by kidney dysfunction.
• Liver cancer: The occurrence of malignancy that occurs in the liver
• Liver symptoms: Symptoms affecting the liver
• 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.
• Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
• Lymphoma, Large-Cell, Follicular: A cancer of cells in the immune system. The cancer is comprised of large cells and tends to be aggressive and metastasizes readily.
• Lymphoma, large-cell: A cancer of cells in the immune system. The cancer is comprised of large cells and tends to be aggressive and metastasizes readily.
• Lymphoma, large-cell, immunoblastic: A cancer of the immune system characterized by the presence of immunoblasts. Immunoblasts are T cells which have been transformed due to stimulation by an antigen.
• Lysinuric protein intolerance: A rare inborn urea cycle disorder characterized by an enzyme defect in the amino acid transporter gene SLC7A7 (positive amino acid transporter).
• MASA Syndrome: A very rare inherited disorders characterized by mental retardation (M), aphasia (A), shuffling walk (S) and adducted thumbs (A). The symptoms are variable from case to case but mental retardation is a consistent feature.
• MSBD syndrome: A rare form of osteosclerosis caused by a lack of calcium in the bones.
• Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance: A rare disorder characterized by osteoporosis, wrinkled skin, aged appearance and abnormal bone development.
• Maffucci Syndrome: A rare genetic disorder characterized by benign cartilage overgrowths, skeletal deformities and dark red irregular skin patches.
• Majeed syndrome: A rare syndrome characterized by blood abnormality and recurring bone infections.
• Major depressive disorder related fibromyalgia: Major depressive disorder related fibromyalgia refers to fibromyalgia that is associated with major depression. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues.
• Manz syndrome: A rare inherited kidney disorder characterized low blood magnesium and high urine calcium levels as well as nystagmus.
• 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.
• Marie-Bamberg syndrome: A rare condition characterized by clubbing of fingers and toes, excessive sweating and development of fibrous tissue around the ends of bones. The condition is a form of hypertrophic osteoarthropathy that occurs secondary to other conditions such as cardiopulmonary disease and certain cancers.
• Mastocytosis: A disorder where excessive amounts of mast cells proliferate in organs such as the skin, liver, bone, spleen and gastrointestinal tract. Mast cells occur in connective tissue and defend the body against disease by releasing histamine to stimulate the immune system.
• McCune-Albright Syndrome: A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material.
• Medullary cystic kidney disease: A rare genetic kidney disease involving the development of cyst in the kidney which causes problems with kidney function.
• Medullary cystic kidney disease, dominant: A rare genetic kidney disease which can lead to kidney failure.
• Melioidosis: Bacterial infection from soil or water.
• Menkes Disease: Genetic disease of copper deficiency.
• Menopause: End of female reproductive years
• 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.
• Metabolic disorder: occurs when abnormal chemical reactions occur in the body
• Metaphyseal chondrodysplasia Spahr type: A rare genetic bone development disorder characterized mainly by bowed legs.
• Metaphyseal dysostosis mental retardation conductive deafness: A rare, recessively inherited disorder characterized by mental retardation, deafness and skeletal abnormalities.
• Metaphyseal dysplasia - maxillary hypoplasia - brachydactyly: A very rare syndrome characterized mainly by short fingers, underdeveloped upper jaw and bone abnormalities involving the cone-shaped portion near the end of the bones where growth occurs.
• Metaphyseal dysplasia Pyle type: A rare genetic disorder characterized by bone deformities involving the limbs, skull and other parts of the skeleton.
• Metastatic bone cancer: Cancer cells that break off from a primary tumor and enter the bloodstream can reach nearly all tissues of the body. Bones are a common place for these cancer cells to settle in and start growing.
• Methotrexate - Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate 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.
• Methylmalonic acidemia, Cobalamin B deficiency: An inherited organic acid disorder where an enzyme deficiency (Cobalamin B deficiency) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Methylmalonic acidemia, Methylmalonyl CoA mutase deficiency: An inherited organic acid disorder where an enzyme (Methylmalonyl CoA mutase apoenzyme) deficiency impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Methylmalonic acidemia, cobalamin A deficiency: An inherited organic acid disorder where an enzyme deficiency (Cobalamin A deficiency) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Methylmalonic acidemia, methylmalonyl CoA racemase deficiency: An inherited organic acid disorder where an enzyme (methylmalonyl CoA racemase) deficiency impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects.
• Microcephalic osteodysplastic primordial dwarfism, type 1: A form of dwarfism associated with brain and skeletal abnormalities.
• Microcephaly - mental retardation - retinopathy: A very rare syndrome characterized mainly by a small head, mental retardation and retinal disease.
• Mixed connective tissue disease: A rare disorder of the connective tissue which affects a range of body tissues and organs.
• Mixed sclerosing bone dystrophy: A rare form of osteosclerosis caused by a lack of calcium in the bones.
• 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.
• Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
• Mucopolysaccharidosis VII: Disorder of mucopolysaccharide metabolism.
• Multicentric osteolysis - nodulosis - arthropathy: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Multiple Hereditary Exostoses: An hereditary condition which is characterized by benign bony growths projecting from a bone surface
• Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality: A rare condition characterized by various skeletal and eye abnormalities and early death. The parents of the children reported with the condition are believed to be related.
• Multiple endocrine neoplasia type 1: Rare inherited disease causing tumors in multiple glands
• 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 lethal type: A rare syndrome characterized by skin, muscle and skeletal anomalies and fetal death.
• Mycetoma: A severe fungal infection of the skin, underlying tissue and bone.
• Myeloma: A primary malignancy of the plasma cells
• Myhre Syndrome: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
• Myhre-Ruvalcaba-Graham syndrome: A rare disorder characterized by mental retardation, retarded growth before and after birth, early-onset deafness and facial anomalies as well as other problems.
• Myopathy, limb-girdle, with bone fragility: A rare inherited disorder characterized by easy bone fracturing, poor healing of fractures and progressive weakness of the limb-girdle muscles. The fractures tend to occur before the muscle problems. The slow-healing fractures sometimes resulted in osteomyelitis and limb amputation.
• N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
• NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Necrotizing enterocolitis: A rare disease that is tends to occur in premature infants and involves inflammation and destruction of gastrointestinal tissue. It usually occurs within weeks of birth - often after the start of milk feeding. The condition can be extremely serious and even fatal.
• Nephrolithiasis type 1: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction. The disorder is caused by a genetic mutation on chromosome Xp11.22.
• Nephrolithiasis type 2: A rare X-linked inherited kidney disorder involving kidney tubule damage resulting in progressive kidney dysfunction. The disorder is caused by a genetic mutation on chromosome Xq26.1.
• Nephronophthisis, autosomal dominant: A rare genetic kidney disease which can lead to kidney failure.
• Neuritis: Inflammation of a nerve.
• Neuroblastoma: neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue
• Neuroectodermal tumor, primitive: A very rare type of tumor that occurs in children under the age of ten. It is very aggressive and has a poor prognosis with less than half of patients surviving. The tumor originates from primitive nerve cells in the brain (CNS PNET) or other parts of the body (peripheral PNET). CNS tumors can be further divided into infratentorial tumors (e.g. medulloblastoma) or supratentorial tumors. The tumors usually cause no symptoms in the early stages and the symptoms that do develop will vary depending on the exact location and size of the tumor.
• 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-1: Genetic disorder often leading to tumors on nerves.
• Neuropathy: A condition which is characterized by a functional disturbance or pathological change in the peripheral nervous system
• Neuropathy, Hereditary Sensory, Type IV: A rare disorder characterized mainly by insensitivity to pain and inability to sweat.
• Nodulosis-arthropathy-osteolysis syndrome: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Non-Hodgkin's lymphoma, during pregnancy: A cancer that originates in the lymphatic system and occurs during pregnancy. The greatest problem is the fact that the cancer is usually quite aggressive and delays in delivery often results in delayed treatment and a poor prognosis.
• 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.
• OI, Type I: A genetic condition characterized mainly by fragile bones that fracture easily and blue sclerae. The fractures tend start during early childhood (when walking starts) and becomes worse after menopause or in old age. Fractures tend to heal normally. Type I is the mildest form of osteogenesis imperfecta and results from a reduced amount of normal collagen in the body. Other forms of osteogenesis imperfect tend to involve the presence of abnormal collagen.
• OSMED, Homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Ollier Disease: A rare genetic disorder characterized by abnormal bone development.
• Oncogenic hypophosphatemic osteomalacia: A rare condition where a mesenchymal tumor causes low blood phosphate levels. This affects bone mineralization resulting weak, fragile bones and other symptoms.
• Oncogenic osteomalacia: A rare type of cancer (mesenchymal) that results in osteomalacia or rickets. Osteomalacia and rickets normally occurs as a consequence of a diet deprived of vitamin D. The tumor can occur in bone or soft tissue. The removal of the tumor alleviates the osteomalacia.
• Orthopedic disorders: Various types of physical disorders and deformity
• Oslam syndrome: A very rare syndrome characterized mainly by bone cancer, limb abnormalities and enlarged red blood cells.
• 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.
• Osteitis: Inflammation of bone.
• Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
• Osteochondroma: A bone development abnormality characterized by the development of a benign bone tumor that occurs on the ends of long bones. Symptoms, if any, are determined by the location and size of the tumor. The tumor can occur singly or in multiples and in rare instances the tumors may become malignant.
• Osteodysplastic dwarfism, Corsello type: A rare form of recessively inherited severe dwarfism.
• Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski: A very rare fatal disorder characterized by abnormal bone development and growth failure. Death occurs within the first year of life.
• Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
• Osteogenesis imperfecta - congenital joint contractures: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin: Bruck Syndrome 1 and Bruck Syndrome 2.
• Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
• Osteogenesis imperfecta congenita, microcephaly, and cataracts: A rare genetic connective tissue disorder charactedrized by blue sclerae, cataracts and microcephaly - a lethal form of osteogenesis imperfecta.
• Osteogenesis imperfecta, Levin type: A genetic bone disorder which causes fragile bones.
• 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 2: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
• Osteogenesis imperfecta, type 2A: A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes.
• Osteogenesis imperfecta, type 3: A rare genetic connective tissue disorder characterized by progressive limb deformity and normal sclerae.
• 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 5: A rare genetic connective disuse disorder characterized by fragile bones, calcification of membranes between bones and hypertrophic calluses.
• 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.
• Osteogenesis imperfecta, type 7: A rare connective tissue disorder characterized by fragile bones. Type VII is a severe form of the condition which is recessively inherited.
• Osteogenesis imperfecta, type IIB: A rare, recessively inherited, lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIB has a different origin of the genetic mutation but the clinical features are similar. Type IIB involves a defect on the CRTAP gene on chromosome 3p22. The main difference is that type IIA tends to involve a small head and white or light blue eyes.
• Osteogenesis imperfecta, type VIII: A form of connective tissue disorder involving fragile bones. Type VIII is distinguished from the other types of osteogenesis imperfecta by white sclerae, severely reduced bone mineralization and abnormal metaphyses.
• Osteoid Osteoma: Benign bone tumor usually in long bones
• Osteolysis hereditary multicentric: A very rare skeletal disorder characterized by bone loss in the hand and foot bones (carpals and tarsals) as well as abnormalities involving the long bones and digits.
• Osteoma: A benign bone tumor.
• Osteomalacia: Softening of bones caused by a vitamin D deficiency.
• Osteomyelitis: An infection that occurs in bone
• Osteopaenia - myopia - hearing loss - intellectual deficit - facial dysmorphism: A rare syndrome characterized mainly by osteopenia, myopia, hearing loss, mental retardation and an unusual facial appearance.
• Osteopenia: A condition which is characterized by reduced bone mass
• Osteopetrosis: A bone condition characterized by brittle bones and increased bone density which increases the risk of bone fractures.
• Osteopetrosis - renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
• Osteopetrosis autosomal dominant type 2: A very rare dominantly inherited syndrome characterized mainly by increased bone density that affects mostly the spine, pelvis and base of the skull. The increased bone density results because old bone is not resorbed and replaced with new bone.
• Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
• Osteopetrosis with renal tubular acidosis: A rare disorder where increased bone density is caused by carbonic anhydrase II deficiency.
• Osteopetrosis, autosomal recessive 2: 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. This form is relatively mild with survival possible for a couple of decades in some cases.
• Osteopetrosis, autosomal recessive 4: 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 malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
• Osteopetrosis, intermediate form: A recessively inherited bone disease characterized bybrittle bones with increased density. The intermediate form is less severe than the infantile form but more severe than the adult form.
• Osteopetrosis, mild autosomal recessive form: A rare disorder characterized by abnormally increased bone density as old bone is not resorbed and replaced with new bone. This form is relatively mild.
• Osteoporosis: Bone mass loss (osteoporosis) as a symptom
• Osteoporosis - macrocephaly - blindness - joint hyperlaxity: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
• Osteoporosis - macrocephaly - mental retardation - blindness: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
• Osteoporosis - oculocutaneous - hypopigmentation syndrome: A very rare syndrome characterized mainly by osteoporosis and reduced skin and eye pigmentation.
• Osteoporosis, severe - shortened long bones - white sclerae: A rare, lethal syndrome characterized by severe osteoporosis, short limbs and white sclerae.
• Osteoporosis-pseudoglioma syndrome: A rare genetic disorder characterized by early onset of osteoporosis (during childhood) and loss of vision resulting from retinal detachment due to a retinal pseudoglioma (inflammatory eye condition).
• Osteoradionecrosis: A complication of radiation therapy where parts of the bone die due to damage to the blood vessels the supply blood to the involved portion of bone. The symptoms will vary depending on the location and extent of the bone death. Symptoms may not be evident for months or even years. The condition most often occurs in the jaw bone.
• Osteosarcoma: Osteosarcoma is the most common type of malignant bone cancer, accounting for 35% of primary bone malignancies. There is a preference for the metaphyseal region of tubular long bones. 50% of cases occur around the knee.
• Osteosclerosis - ichthyosis - premature ovarian failure: A very rare syndrome characterized mainly by increased bone density, scaly skin and premature menopause.
• Osteosclerosis with ichthyosis and premature ovarian failure: A very rare syndrome characterized mainly by increased bone density, scaly skin and premature menopause.
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-Palato-digital syndrome type 1: A rare genetic disorder characterized by deafness, cleft palate, broad fingers and toes and short nails.
• Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Oto-spondylo-megaepiphyseal dysplasia, homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Otoonychoperoneal syndrome: A very rare syndrome characterized mainly by underdeveloped ears and nails, shoulder anomalies and straight collarbones.
• Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
• Ovarian insufficiency due to FSH resistance: A rare disorder where the ovaries fail to function normally as they are unable to respond to follicle stimulating hormones.
• Ovarian insufficiency, familial: A rare inherited disorder where the ovaries fail to function normally despite normal levels of hormones that stimulate ovarian activity. Ovarian failure is a normal phase of aging and is associated with menopause but it is termed ovarian insufficiency when it occurs in a female under the age of 40.
• Oxalosis: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of peroxisomal alanine-glyoxalate aminotransferase and type II involves a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase.
• Oxalosis, Type II: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase.
• Oxalosis, type I: A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of alanine-glyoxalate aminotransferase.
• Paget disease juvenile type: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
• 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.
• Paget's disease, type 1: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 6p21.3.
• Paget's disease, type 4: A rare disorder involving pigmentation and vascular abnormalities. The lesions usually involve large areas of the body and the pigmentation color can include pink, bluish and brown.
• Panostotic fibrous dysplasia: A rare disorder characterized by an unusual facial appearance, fragile bones, high blood phosphatase levels that low blood phosphate levels.
• Parastremmatic dwarfism: A rare disorder characterized by severe dwarfism, kyphoscoliosis, contractures of the large joints and twisted and bowed limb bones.
• Parathyroid Cancer: A condition that is characterised by malignancy that affects the parathyroid
• Parathyroid cancer, adult: A rare cancer that can occur in the parathyroid gland in adults. The parathyroid glands regulate body calcium levels so cancer of the gland upsets the body's calcium balance causing muscle, bone and other symptoms.
• Pelizaeus-Merzbacher Disease: Rare brain myelin disorder.
• Pelizaeus-Merzbacher disease, recessive, acute infantile: A severe form of the degenerative brain disease involving deterioration of the brain white matter and resulting in impaired motor and mental functioning.
• Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.
• Perinatal hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a severe deficiency of alkaline phosphate which results in death before or within days of birth.
• Periosteal chondrosarcoma: A form of bone cancer that originates from cartilage tissue. Periosteal chondrosarcomas originate from the surface of previously healthy bones. The most common location is the metaphyses (part of the bone between the shaft of the bone and the rounded ends) of long bones.
• Peripheral neuropathy: Any loss in the function of the peripheral nervous system
• Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy.
• Phosphate diabetes: A condition where the kidney tubules fail to reabsorb phosphate resulting in excess phosphate in the urine.
• Pierre Robin syndrome skeletal dysplasia polydactyly: A rare disorder characterized by the Pierre-Robin sequence (underdeveloped jaw, cleft soft palate and abnormal tongue location), extra fingers and skeletal abnormalities.
• Pituitary cancer, childhood: Cancer (malignant) of the pituitary gland in children. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Pituitary tumors, adult: A benign or cancer tumor that develops in the tissue of the pituitary gland in adults. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Plasma cell leukemia: A form of leukemia characterized by the proliferation of plasma cells in the peripheral blood system. The prognosis is generally poor for this usually aggressive condition.
• Pointer syndrome: A rare syndrome characterized mainly by skeletal abnormalities, permanently flexed fingers, facial anomalies and feeding problems.
• Polycythemia: increase in the total number of red blood cells in the circulation. It can be primary or secondary
• Polyostotic osteolytic dysplasia, hereditary expansile: A very rare syndrome characterized by severe bone pain and deformity as well jaw and ear abnormalities. Deafness usually starts in the first decade. Bone symptoms such as pain usually start in the second decade.
• 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.
• Pregnancy symptoms: Symptoms related to pregnancy.
• Premature aging: Early appearance of the signs of aging before old age
• Premature aging, Okamoto type: A form of premature aging.
• Primary Fibromyalgia: Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Primary fibromyalgia is a term given to fibromyalgia that occurs for no apparent reason whereas secondary fibromyalgia has an identifiable cause. The primary form is more common than the secondary form.
• Primary biliary cirrhosis: Primary biliary cirrhosis is a chronic and progressive cholestatic disease of the liver.
• Primary chondrosarcoma: A form of bone cancer that originates from cartilage tissue. Primary chondrosarcomas originate from the central parts of previously healthy bones. The most common areas affected are the pelvic bones, femur, humerus, arm, spine and ribs.
• Primary granulocytic sarcoma: A malignant tumor derived from immature white blood cells called myeloblasts. It can occur anywhere in the body but is most commonly found in bone, soft tissue, lymph nodes and skin. Symptoms will vary according to the location of the tumor.
• Primary hyperoxaluria type 1: A rare inherited inborn metabolic disorder characterized by excessive amounts of oxalate in the urine and deposits of oxalate in the kidneys which leads to progressive kidney failure. There are two subtypes of Oxalosis, each with a different origin for the genetic defect involved. Type 1 involves a deficiency of a liver enzyme called Alanine-glyoxylate aminotransferase. Type 2 tends to cause a milder disease than type 1 with better longterm outcomes.
• Primary hyperoxaluria type 2: A rare inherited inborn metabolic disorder characterized by excessive amounts of oxalate in the urine and deposits of oxalate in the kidneys which leads to progressive kidney failure. There are two subtypes of Oxalosis, each with a different origin for the genetic defect involved. Type 2 involves a deficiency of a liver enzyme called D-Glycerate Dehydrogenase. Type 2 tends to cause a milder disease than type 1 with better longterm outcomes.
• 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.
• Primerose 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.
• 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 Supranuclear Palsy: A disorder characterized by reduced motor control, dementia and eye movement problems.
• Prolactinoma: Benign cancer of the pituitary gland producing prolactin.
• Prolactinoma, familial: A pituitary tumor that secretes prolactin and occurs in a familial pattern of inheritance. The tumor is benign but can cause symptoms due to high prolactin levels or compression of the optic nerve.
• Prolidase deficiency: A rare metabolic disorder where an enzyme (prolidase) deficiency impairs the breakdown of certain proteins which causes a harmful buildup in the body. The type and severity of symptoms are variable and may include skin disorders, retarded motor development, impaired cognitive development, frequent infections and skeletal abnormalities.
• Prostate Cancer: Cancer of the prostate.
• Protein S acquired deficiency: A rare disorder involving a deficiency of a blood protein called protein S. Protein S prevents blood from clotting in the veins. A deficiency of protein S can be acquired through liver disease, chemotherapy, lack of vitamin K or through the use of oral anticoagulants or L-asparaginase.
• Proximal Renal Tubular Acidosis: This is a condition that is characterised by a metabolic acidosis state caused by impairment of a persons renal function
• Proximal spinal muscular atrophy: A rare group of muscle disorders which mainly affects the muscles closest to the trunk of the body. Muscles become progressively weak and wasted due to damage to motor neurons in the spinal cord and brainstem.
• Proximal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare syndrome characterized mainly by diabetes, movement disorder and kidney abnormality. Death often occurs during childhood.
• Pseudoachondroplasia: A rare genetic disorder characterized by bone growth and development abnormalities.
• Pseudophosphatasia: A rare condition where infants have all the physical features of infantile hypophosphatasia but alkaline phosphatase activity is normal.
• Pseudoprogeria syndrome: A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation.
• Psychiatric disorders associated Celiac Disease: Patients with Psychiatric disorders are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Pterygium syndrome, X-linked: A rare disorder involving skin, bone and muscle abnormalities with webbing in parts of the body such as the neck, elbows and back of legs.
• Pure red cell aplasia, congenital: A rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Pycnodysostosis: A rare inherited biochemical disorder involving an enzyme (cathepsin k) deficiency which impairs the processes needed to maintain healthy bones.
• Pyknoachondrogenesis: A very rare lethal syndrome characterized mainly by abnormal skeletal growth as well as abnormal bone calcification.
• Raine syndrome: A very rare syndrome characterized mainly by increased bone density which ultimately results in death.
• Rajab-Spranger syndrome: A rare syndrome characterized mainly by a skin fat disorder, mental retardation and deafnes.
• Rathburn disease: A rare inherited condition involving bone and teeth mineralization abnormalities and reduced phosphatase enzyme activity. The severity of the disorder varies according to the degree of reduction in phosphatase activity.
• Reflex sympathetic dystrophy syndrome: A condition characterized by pain and reduced range of motion in the shoulder and hand of the affected arm.
• Refractory Celiac Disease: Refractory Celiac Disease is celiac disease that fails to respond to treatment which involves a gluten-free diet. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The condition is quite uncommon and often the resulting poor absorption of nutrients from the intestines leads to a poor prognosis.
• Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Reiter’s syndrome: A form of reactive arthritis characterized by arthritis, urethritis, conjunctivitis and skin lesions.
• Renal osteodystrophy: Lack of bone mineralization due to kidney disease.
• Renal tubular acidosis progressive nerve deafness: A kidney disorder where progressive nerve deafness is associated with the kidney's is inability to effectively remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine.
• Renal tubular acidosis, distal: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine.
• Renal tubular acidosis, distal - type I: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine. Type I also involves potassium level abnormalities.
• Renal tubular acidosis, distal - type III: A kidney disorder where the kidney is unable to effective remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine. Type III involves the potassium level abnormalities of type I as well as bicarbonate level abnormalities resulting from excessive bicarbonate removal from the blood at the proximal part of the kidney tubules.
• Renal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare condition characterized by rapidly progressive diabetes, kidney disease and cerebellar ataxia. Symptoms develop during the first five years.
• Rheumatoid arthritis related fibromyalgia: Rheumatoid arthritis related fibromyalgia refers to fibromyalgia that is associated with rheumatoid arthritis. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Rheumatoid arthritis is a chronic inflammatory form of arthritis and is an autoimmune disease.
• 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.
• Rhodococcus equi: A rare form of bacterial infection that usually affects horses and foals but can cause infection mainly in immunocompromised people. Infection usually starts at the site of some sort of trauma. Symptoms and severity may vary considerably depending on the location and extent of the infection.
• Rib Bruise: Bruise occurring on or around the ribs.
• Rib Itch: Itchy feeling occurring on or around the ribs
• Rib Rash: Rash occurring on or around the ribs.
• Rib fracture: A fracture of the ribs
• Rib pain: Pain occurring on or around the ribs.
• Rib swelling: Swelling occurring on or around the ribs
• Rib symptoms: Symptoms affecting the ribs
• Ribbing disease: A rare disorder primarily involving abnormal development of bone tissue inside parts of some long bones - particularly in the lower legs.
• Ribbing syndrome: An inherited syndrome characterized patches of increased bone density in the shafts of one or more long bones. The shin and thigh bone are the most common bones affected. The condition is often asymptomatic.
• 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
• Riley Shwachman syndrome: A rare condition involving bone changes and exaggerated reflexes.
• Roifman syndrome: A rare syndrome characterized by abnormal bone growth, immune deficiency and an eye disorder.
• Rokitansky-Küster-Haüser syndrome: A rare condition characterized by absence of the vagina and uterine abnormalities.
• Roy-Maroteaux-Kremp syndrome: A very rare syndrome characterized mainly by skin lesions abnormal bone development and spastic paraplegia.
• SAPHO syndrome: A rare disorder involving skin (acne, pustulosis), bone (hyperostosis, osteitis) and joint problems.
• SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
• SLE related fibromyalgia: SLE related fibromyalgia refers to fibromyalgia that is associated with systemic lupus erythematosus. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. SLE is an autoimmune disease that can affect virtually any body system e.g. blood vessels and organs.
• Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Salvioli syndrome: A rare inherited form of bone disease.
• Sandhaus Ben-Ami syndrome: A rare disorder characterized by an underdeveloped kneecap and other skeletal abnormalities.
• Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
• Sarrouy disease: A disease characterized mainly by anemia, poor growth and enlarged liver and spleen. The disease usually ends with death.
• Say-Carpenter syndrome: A very rare syndrome characterized mainly by wide set eyes, abnormally placed urethral opening in males and abnormal bone development.
• Schneckenbecken dysplasia: A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other bone abnormalities. The condition generally results in stillbirth or death soon after birth.
• Schnitzler syndrome: A rare syndrome characterized by the association of chronic urticaria as well as a blood abnormality called macroglobulinemia.
• Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
• Scurvy: Severe disease from vitamin C deficiency
• Secondary Biliary Cirrhosis: Secondary biliary cirrhosis is a condition where the bile ducts are unable to transport bile effectively due to a secondary cause which results in blockage, inflammation, scarring or some other damage to the bile ducts. The condition may result from such things as congenital defect of the bile ducts (e.g. biliary atresia), cystic fibrosis, gallstones or a variety of other secondary conditions.
• Secondary Bone Cancer: Tumour development in bone as a result of spread from a primary malignant tumour from another body site (usually lung bronchus, breast and prostate)
• Secondary Fibromyalgia: Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Primary fibromyalgia is a term given to fibromyalgia that occurs for no apparent reason whereas secondary fibromyalgia has an identifiable cause. The primary form is more common than the secondary form.
• Secondary chondrosarcoma: A form of bone cancer that originates from cartilage tissue. Secondary chondrosarcomas originate from benign bone anomalies such as osteochondroma or enchondroma. The most common location is the hips and shoulders but can occur on any part of the skeleton.
• 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.
• Serratia: An infectious disease caused by bacteria from the Serratia genus. The bacteria can cause urinary tract infection, pneumonia, respiratory tract infections, endocarditis, osteomyelitis, septicemia, eye infection, meningitis and wound infections. This type of bacterial infection shows some antibiotic resistance. Symptoms and severity depend on the location and extent of the infection.
• Shaken Baby Syndrome: A condition caused by violent shaking of a baby.
• Short stature - hyperkaliemia - acidosis: A very rare syndrome characterized mainly by short stature and metabolic abnormality.
• Short stature, Brussels type: A very rare syndrome characterized mainly by short stature.
• Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
• Shwachman syndrome: A rare disorder where a pancreatic defect impairs digestive enzyme production and malfunction of the bone marrow produces blood abnormalities, particularly blood cells involved with fighting infection. These defects produce a range of symptoms as a result of malabsorption and poor ability to fight infections. Characterized by a lack of digestive enzymes and low immunity due to low leukocyte level.
• Sickle cell anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
• Sickle cell crisis: A condition which is characterized by either a hemolytic crisis or vaso-occlusive crisis
• Singleton-Merten Syndrome: A very rare disorder involving calcium abnormalities which affect the teeth, bones and blood vessels.
• Skeletal dysplasia - coarse facies - mental retardation: A very rare syndrome characterized by a coarse face, mental retardation and skeletal abnormalities.
• Skeletal pain:
• Slavotinek hurst syndrome: A very rare inherited syndrome characterized mainly by cataracts, short stature, learning difficulties, skeletal abnormalities and a motor system disorder.
• Slavotinek-Pike-Mills-Hurst syndrome: A very rare inherited syndrome characterized mainly by cataracts, short stature, learning difficulties, skeletal abnormalities and a motor system disorder.
• Sleep disturbance related fibromyalgia: Sleep disturbance related fibromyalgia refers to fibromyalgia that is associated with sleep disturbance. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues.
• Small bowel bacterial overgrowth syndrome: The small bowel is a part of the digestive system. A healthy small bowel contains some bacteria but in bacterial overgrowth syndrome, there are an excessive number of bacteria. Abnormal small bowel muscle function is often associated with conditions such as intestinal motility problems due to neurological diseases and muscular diseases, diabetes mellitus, small intestine obstruction and diverticulitis. It may also be caused by certain medications and abdominal surgeries.
• Snyder-Robinson syndrome: A rare syndrome characterized by mental retardation, reduced muscle tone, abnormal walk, weak bones and an asymmetrical face.
• Spastic paraplegia 9, autosomal dominant: A rare disorder characterized by muscle wasting and weakness mainly in the legs, short stature, skeletal abnormalities and cataracts.
• Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
• 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 muscular atrophy, type I, with congenital bone fractures: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Bone fractures also occur in newborn infants.
• Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance.
• Spinocerebellar ataxia-dysmorphism syndrome: A rare genetic disorder characterized by characteristic facial anomalies, ataxia, delayed psychomotor development and various skeletal deformities.
• Spleen Cancer: Malignancy of white blood cells with tumour deposits in the spleen.
• Spleen neoplasm: A tumor that originates in the spleen.
• Sponastrime dysplasia: A rare genetic disorder involving severe skeletal changes that results in short limbs, dwarfism and spinal and facial bone abnormalities.
• Spondylo-ocular syndrome: A rare, recessively inherited syndrome characterized mainly by eye and spinal abnormalities.
• 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 hypotrichosis: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as reduced hair.
• Spondyloepimetaphyseal dysplasia with multiple dislocations: A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations.
• Spondyloepimetaphyseal dysplasia, Missouri type: A rare skeletal disorder where the spine and long bones grow and develop abnormally. The Missouri type is characterized by bowed legs, short limbs and abnormal vertebral shape.
• 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.
• Stanescu syndrome: A rare disorder involving abnormal bone and cartilage development
• Stiff-Person Syndrome: A very rare progressive neurological disorder involving muscle tightness and painful muscle spasms.
• Storm syndrome: A rare progressive genetic disorder characterized by premature aging and heart disease which results in premature death.
• Streptococcal Infections: Various "strep" bacterial infections.
• 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.
• Stuve-Wiedemann dysplasia: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Stuve-Wiedemann syndrome: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
• Sub clinical hypothyroidism: Sub clinical hypothyroidism, also referred to as mild hypothyroidism, is defined as normal serum free T4 levels with slightly high serum TSH concentration.
• Subclinical hyperthyroidism: Subclinical hyperthyroidism is characterized by a low or undetectable concentration of serum thyrotropin (TSH) with free triiodothyronine (FT3) and free thyroxine (FT4) levels within laboratory reference ranges.
• Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
• Susceptibility to Celiac Disease 1: Susceptibility to celiac disease 1 is a term allocated to a genetic defect on a particular chromosome (chromosome 6p21.3) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 10: Susceptibility to celiac disease 10 is a term allocated to a genetic defect on a particular chromosome (chromosome 3q25-q26) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 11: Susceptibility to celiac disease 11 is a term allocated to a genetic defect on a particular chromosome (chromosome 3q28) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 12: Susceptibility to celiac disease 12 is a term allocated to a genetic defect on a particular chromosome (chromosome 6q25) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 13: Susceptibility to celiac disease 13 is a term allocated to a genetic defect on a particular chromosome (chromosome 12q24) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 2: Susceptibility to celiac disease 2 is a term allocated to a genetic defect on a particular chromosome (chromosome 5q31-q33) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 3: Susceptibility to celiac disease 3 is a term allocated to a genetic defect on a particular chromosome (chromosome 2q33) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 4: Susceptibility to celiac disease 4 is a term allocated to a genetic defect on a particular chromosome (chromosome 19p13.1) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 5: Susceptibility to celiac disease 5 is a term allocated to a genetic defect on a particular chromosome (chromosome 15q11-q13) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 6: Susceptibility to celiac disease 6 is a term allocated to a genetic defect on a particular chromosome (chromosome 4q27) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 7: Susceptibility to celiac disease 7 is a term allocated to a genetic defect on a particular chromosome (chromosome 1q133) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 8: Susceptibility to celiac disease 8 is a term allocated to a genetic defect on a particular chromosome (chromosome 2q11-q12) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Susceptibility to Celiac Disease 9: Susceptibility to celiac disease 9 is a term allocated to a genetic defect on a particular chromosome (chromosome 3p21) which makes a patient more susceptible to developing celiac disease. However, it is important to note that having the genetic anomaly does not mean a person will definitely develop celiac disease. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Swollen bone: Enlarged, swollen, or misshapen bones
• 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.
• Syphilis - Teratogenic Agent: There is strong evidence to indicate that the development of Syphilis 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 stage of pregnancy that the exposure occurred at.
• Systemic mastocytosis: A condition which is characterized by an accumulation of mast cells in the tissues of the body
• T-cell acute lymphoblastic leukemia: Cancer of particular white blood cells called T-cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets.
• TDO type II: A rare genetic ectodermal disorder characterized by kinky hair, tooth enamel and bone abnormalities and differs from type I mainly by a small head and increased long bone density.
• Temporary increase in bone pain: A temporary increase in ones pain that occurs in the bone
• Tension myositis related fibromyalgia: Tension myositis related fibromyalgia refers to fibromyalgia that is associated with tension myositis. Fibromyalgia is a chronic condition characterized mainly by pain mainly in the muscles which involves no associated damage to the tissues. Tension myositis is a chronic pain syndrome that tends to mainly affect the back, neck, arm and pelvis.
• Thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called ? and ?. There are two subtypes of the disorder (? and ?) depending on what portion of the hemoglobin is abnormally synthesized. Each of these subtypes can be further classified depending on the number of thalassemia genes involved. A total of four genes is needed to make each ? protein chains and two genes are needed to make each ? chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
• Thick skull syndrome: An inherited bone condition where the skull bones become abnormally thick and trap some of the skull nerves.
• Thinness: Underweight and thin
• Tibial aplasia - ectrodactyly - hydrocephalus: A rare syndrome characterized mainly by a build up of fluid inside the skull (hydrocephaly), shin bone abnormalities and a split hand deformity.
• Tietze's syndrome: Inflammation and swelling of the cartilage that joins the ribs to the breast bone.
• Toni-Fanconi syndrome type 1:
• Toriello-Higgins-Miller syndrome: A rare syndrome involving abnormal calcification of growing ends of bones as well as eye and facial anomalies.
• Tricho-dento-osseous syndrome: A rare genetic disorder characterized by kinky hair, tooth enamel and bone abnormalities. There are two different subtypes with type I being distinguished from type II by the presence of a small head and increased density in the long bones.
• Tricho-dento-osseous syndrome type I: A rare genetic ectodermal disorder characterized by kinky hair, tooth enamel and bone abnormalities.
• Tricho-hepato-enteric syndrome: A very rare syndrome characterized mainly by hair and liver abnormalities as well as severe diarrhea that usually starts in early infancy and can lead to death.
• Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
• Trichorhinophalangeal syndrome type 3: A rare inherited disorder involving hair, face, teeth, and bone abnormalities. The type and severity of symptoms is variable.
• Trisomy 10 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 10 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
• Trisomy 4 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 4 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Tuberous sclerosis: A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Turner syndrome associated Celiac Disease: Females with Turner syndrome are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Type 1 diabetes related Celiac Disease: Patients with Type 1 diabetes are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• 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.
• Type II Achondrogenesis-Hypochondrogenesis: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• 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.
• Uniparental disomy: Getting both of a chromosome pair from one parent
• Uniparental disomy 13: A condition which is characterised by the uniparental disomy of chromosome 13
• Uniparental disomy of 11: A condition which is characterised by the uniparental disomy of chromosome 11
• Uniparental disomy of 13: A condition which is characterized by the uniparental disomy of chromosome 13. This means that the patient receives two copies of chromosome 13 from one parent instead of one copy from each parent. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Uniparental disomy of 2: A condition which is characterised by the uniparental disomy of chromosome 2
• Uniparental disomy of 6: A condition which is characterised by the uniparental disomy of chromosome 6
• Uniparental disomy, paternal, chromosome 14: A condition which is characterised by the uniparental disomy of chromosome 14
• Urban rogers meyer syndrome: A rare syndrome characterized by mental retardation, short stature, hand contractures, genital anomalies and other abnormalities.
• Uterine Cancer: Cancer of the uterus.
• 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.
• Vertebral fracture: Any fracture which occurs to the vertebrae of the back
• Vicodin withdrawal: Symptoms that occur when Vicodin use is discontinued or reduced. Vicodin is a pain-killing drug. Symptoms may vary depending on the level of dependence.
• Vitamin D - adverse effects: Excessive use of vitamin D supplements can cause symptoms.
• Vitamin D deficiency: Deficiency of vitamin D
• WT limb blood syndrome: A rare genetic disorder characterized by blood and limb abnormalities.
• Waldenstrom macroglobulinemia: A plasma cell dyscrasia that resembles leukaemia
• Weak bones: Weakening of the bones
• Weber-Christian disease: A form of panniculitis involving fever and liver and spleen enlargement.
• Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.
• Whooping Cough: An infectious condition caused by the bacteria Bordetella pertussis
• Wildervanck syndrome: A rare birth disorder involving hearing loss, fusion of vertebrae and eye movement abnormalities/
• William's syndrome associated Celiac Disease: Patients with William's syndrome are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
• Wilson's disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.
• Winchester Syndrome: A very rare condition involving destruction of bone in the ankle, wrists and elbows as well as eye, teeth and joint abnormalities.
• Wolman syndrome: A form of lipoidosis where acid cholesteryl ester hydrolase deficiency causes an accumulation of lipids (particularly cholesterol esters and triglycerides) in tissues and organs.
• Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency: A variant of the connective tissue disorder called Ehlers-Danlos. It is caused by a deficiency of galactosyltransferase I.
• Yaws: A rare infections disease caused by the spiral-shaped bacteria Treponema pertenue. The disease consists of three phases: skin lesions are followed by bone, joint and widespread skin symptoms and finally by inflammation and destruction of cartilage in the nose, pharynx and palate. Transmission can be through direct contact with infected skin, insect bites or sex.

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