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Glossary for Richieri-Costa Pereira syndrome

  • 3C syndrome: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
  • 49,XXXXX syndrome: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
  • 49,XXXXY syndrome: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
  • AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • Abidi X-linked mental retardation syndrome: A rare genetic disorder characterized by a number of physical abnormalities
  • Abruzzo Erickson syndrome: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
  • Acanthocytosis: A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosis depend on the underlying disorder.
  • 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.
  • Achalasia -- adrenal -- alacrima syndrome: A familial disorder characterized by adrenal gland-related hormonal problems, swallowing difficulty (achalasia) and a lack of tears (alacrima). Neurological impairment and motor and sensory neuropathy is progressive. The adrenal glands in patients are resistant to the ACTH hormone and hence fails to operate normally.
  • 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.
  • Achondroplasia: A disorder characterized by problems with bone growth.
  • Acrocapitofemoral dysplasia: A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips.
  • Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
  • Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia: A rare inherited disorder characterized by short stature, underdeveloped calf bones and abnormalities of the hand and foot bones.
  • Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
  • Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
  • Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
  • Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
  • Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
  • Acrogeria (Gottron Type): An extremely rare, mild form of progeria.
  • Acromesomelic dysplasia Brahimi Bacha type: A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones.
  • Acromesomelic dysplasia Campailla Martinelli type: A form of dwarfism where the main shortening occurs in the lower legs and arms.
  • Acromesomelic dysplasia Hunter Thompson type: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones.
  • Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
  • Acromicric dysplasia: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones and facial anomalies.
  • Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
  • 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 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 hyperplasia, congenital, due to 11-Beta-hydroxylase deficiency: A rare form of congenital adrenal hyperplasia characterized by a deficiency of 11-Beta-hydroxylase which results in excess androgen production and hypertension. The disorder can occur in virilizing, hypertensive and salt-wasting forms and symptoms may range from mild to severe.
  • Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
  • 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.
  • Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
  • Akaba-Hayasaka syndrome: A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.
  • Akesson syndrome: A very rare syndrome characterized by excessive skin folds and furrows on the scalp, mental retardation the failure of the thyroid to develop.
  • Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
  • Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
  • Al Gazali Aziz Salem syndrome: A rare syndrome characterized mainly by heart disease, short stature and a webbed neck.
  • Al Gazali-Khidr-Prem Chandran syndrome:
  • Albright like syndrome: A rare disorder characterized by mental retardation, short stature and finger and toe abnormalities.
  • 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.
  • Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
  • Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
  • Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
  • Amish brittle hair syndrome: A rare inherited condition characterized by brittle hair, mental and physical impairment, decreased fertility and short stature.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Andersen-Tawil syndrome: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium.
  • Angel shaped phalangoepiphyseal dysplasia: A rare genetic bone development disorder characterized mainly by an unusual angel-shaped ends of some bones (fingers and hips) which leads to early osteoarthritis.
  • Angiokeratoma -- mental retardation -- coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
  • Aniridia -- renal agenesis -- psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation.
  • Ankle defects short stature: A rare disorder characterized mainly by ankle defects and short stature
  • Anophthalmia -- hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- short stature -- obesity: A very rare syndrome characterized by absent eyes, short stature and obesity.
  • Apelt-Gerkin-Lenz Syndrome: A rare inherited syndrome characterized by clefting of the lip and palate as well as the absence of variable portions of all of the limbs.
  • Aphalangia -- syndactyly -- microcephaly: A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers.
  • Arima syndrome: A rare disorder characterized mainly by eye and brain abnormalities.
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • Arthrogryposis IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
  • Arthrogryposis distal type II: A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects.
  • Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis-like hand anomaly -- sensorineural deafness: A rare disorder characterized by hand contractures and deafness.
  • Arthropathy, progressive pseudorheumatoid, of childhood: A form of progressive rheumatoid arthritis that affects children.
  • 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.
  • Asphyxiating Thoracic Dystrophy: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
  • Asymmetric short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
  • Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Atelosteogenesis, type 1: A rare genetic disorder characterized by bone formation abnormalities, short stature and early death.
  • Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
  • Atkin-Flatiz syndrome: A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies.
  • Atrichia -- mental and growth delay: A rare syndrome characterized mainly by mental retardation, growth delay and the absence of hair.
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • 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.
  • Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
  • BIDS syndrome: A rare inherited condition characterized by brittle hair (B), mental and physical impairment (I), decreased fertility (D) and short stature (S).
  • BOD syndrome: A very rare syndrome characterized primarily by small nails, digital abnormalities (mainly of the fifth finger and toe) and various facial anomalies.
  • Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
  • Bamboo hair syndrome: A rare inherited condition characterized by abnormally formed hair shafts and a skin condition involving scaling and redness of the skin. Patients are also predisposed to developing allergic conditions such as asthma and eczema and food allergies. The severity of the condition can vary with some infants having a poor prognosis due to severe allergies, infections and skin problems whereas others have milder symptoms and fewer allergic manifestations.
  • Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
  • Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
  • Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
  • Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
  • Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
  • Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
  • Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
  • Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
  • Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
  • Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
  • Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
  • Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart 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.
  • Bellini-Chiumello-Rinoldi syndrome: A very rare syndrome characterized primarily by mental retardation, short stature and unusual shaped ends of long bones.
  • Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
  • Berlin Breakage syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. The features of this condition are virtually indistinguishable from the Nigmegen Breakage syndrome.
  • Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification: A very rare syndrome characterized primarily by brain aneurysms, liver cirrhosis, pulmonary emphysema and calcification of the brain (cerebrum).
  • Bessel-Hagen disease: A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Blepharo facio skeletal syndrome: A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities.
  • Blepharophimosis with ptosis, syndactyly, and short stature: A very rare genetic condition characterized by the association of droopy eyelids, webbed digits and short stature.
  • Blepharoptosis -- aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
  • Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
  • Blomstrand syndrome: A rare lethal congenital condition characterized by abnormal bone development.
  • Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face.
  • Bone conditions: Conditions that affect the bones
  • Bone dysplasia, lethal, Holmgren type: A rare lethal bone malformation syndrome.
  • Bonneman-Meinecke-Reich syndrome: A very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the part of the eye called the retina.
  • Bonnemann-Meinecke-Reich syndrome: A rare disorder characterized mainly by growth problems, vision problems and brain disease.
  • Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
  • Boudhina-Yedes-Khiari syndrome: A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions.
  • 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 -- arterial hypertension: A rare syndrome characterized by the association of hypertension with short digits. Premature death (by the fifth decade) due to stroke occurs in untreated patients.
  • Brachydactyly -- mesomelia -- mental retardation -- heart defects: A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs.
  • Brachydactyly -- small stature -- face anomalies: A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies.
  • Brachydactyly -- tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
  • Brachyolmia: A syndrome characterized mainly by short trunk dwarfism. There are several different subtypes, each with different additional features.
  • Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
  • Brittle hair -- mental deficiency: A rare inherited disease characterized by brittle hair, mental retardation and fragile nails.
  • Brosnan Syndrome: A very rare syndrome described in two sisters. The condition involved a variety of abnormalities including short stature and kidney and reproductive anomalies.
  • Bullous dystrophy, macular type: A rare condition characterized by loss of scalp hair, increased skin pigmentation, small head, mental retardation, short stature and blisters. The blisters do not form necessarily on skin that has suffered trauma but occurs spontaneously.
  • Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
  • Byler Disease: A rare inherited conditions where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The conditions has an early onset and usually leads to end-stage liver disease by the end of the second decade.
  • CCFDN: A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy.
  • CDG syndrome type 1A: 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.
  • Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
  • Campomelic Syndrome: A rare condition characterized by dwarfism due to bowed shin and thigh bones as well as various craniofacial and other skeletal anomalies.
  • Camptodactyly -- joint contractures and facial skeletal dysplasia: A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly).
  • Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
  • Camptodactyly syndrome, Guadalajara type 2: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
  • Camptodactyly syndrome, Guadalajara type 3: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
  • Camptomelic syndrome: A rare inherited skeletal disorder characterized by short stature, missing ribs and other abnormalities.
  • Cantu syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
  • Cardiomelic syndrome Stratton Koehler type: A rare syndrome characterized mainly by heart and skeletal abnormalities.
  • Cartilage Hair Hypoplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
  • Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.
  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • Cataract -- aberrant oral frenula -- growth delay: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
  • Cataract -- ataxia -- deafness: A rare syndrome characterized by cataracts, ataxia and progressive deafness.
  • Cataract deafness hypogonadism: A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production.
  • Caudal appendage -- deafness: A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage).
  • Celiac Disease: Digestive intolerance to gluten in the diet.
  • 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 skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
  • Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
  • Cerebrorenodigital syndrome with limb malformations and triradiate acetabula: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities as well as an abnormal hip socket.
  • 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 Baraitser syndrome: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thigh bone abnormalities.
  • Cholestasis, progressive familial intrahepatic 2: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The condition has an early onset and usually leads to end-stage liver disease by the end of the second decade. The various types of this condition differ in the origin of the genetic defect (liver-specific ATP-binding cassette transporter on chromosome 2q24). Type 2 is also associated with an increased risk of liver cancer in the first few years of life.
  • Cholestasis, progressive familial intrahepatic 3: A rare inherited condition where bile is unable to drain from the liver where it builds up and causes progressive liver damage. The condition has an early onset and usually leads to end-stage liver disease by the end of the second decade. The various types of this condition differ in the origin of the genetic defect (liver-specific ATP-binding cassette transporter on chromosome 2q24). Type 2 is also associated with an increased risk of liver cancer in the first few years of life.
  • Chondrodysplasia punctata lethal neonatal: A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head.
  • Chondrodysplasia punctata with steroid sulfatase deficiency: A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The skeletal disorder involves abnormal bone calcification near the joints also results in shortened limbs.
  • Chondrodysplasia punctata, humero-metacarpal type: A rare genetic disorder characterized mainly by abnormal bone calcification. The abnormal calcification occurred in various parts of the body such as the feet, shoulders, tailbone, spine and trachea.
  • Chondrodysplasia, acromesomelic, with genital anomalies: A very rare condition characterized by severe limb malformations and genital anomalies. The reported case involved related parents.
  • Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Chondroectodermal dysplasia: A rare genetic disorder characterized by dwarfism, extra fingers and/or toes and nail and hair abnormalities.
  • Choroideremia -- hypopituitarism: A rare inherited disorder characterized by eye disease and hypopituitarism.
  • Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
  • Chromosome 1 ring: A rare chromosomal disorder where the ends of chromosome 1 are deleted and the chromosome rejoins to form a ring. The disorder is characterized by mental and physical development delay, short stature and low birth weight.
  • Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
  • 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 1, duplication 1p21 p32: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.
  • Chromosome 1, monosomy 1p22 p13: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, short stature, hearing loss and hand defects.
  • Chromosome 1, monosomy 1q25 q32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity.
  • Chromosome 1, monosomy 1q32 q42: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.
  • Chromosome 1, monosomy 1q4: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects.
  • Chromosome 1, q42 11 q42 12 duplication: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes mainly short stature and dwarfism.
  • Chromosome 1, trisomy 1q42 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.
  • Chromosome 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
  • Chromosome 11, Partial Monosomy 11q: 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.
  • Chromosome 13p duplication: A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects.
  • Chromosome 14 deletion: A rare genetic disorder where deletion genetic material from chromosome 14 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is deleted.
  • Chromosome 14q, proximal duplication: A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature.
  • Chromosome 14q, terminal duplication: A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation.
  • Chromosome 15q26-qter Deletion Syndrome: A rare disorder where a portion of genetic material on a particular chromosomal location (15q26-qter) is missing which manifests in a variable range of symptoms.
  • Chromosome 17 deletion: A rare genetic disorder where deletion genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is deleted.
  • Chromosome 17 trisomy: A rare genetic disorder where duplication of genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is duplicated.
  • Chromosome 17, trisomy 17p11.2: A rare chromosomal disorder where a portion of the short arm of chromosome 17 is duplicated.
  • Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 19q13.11 Deletion syndrome: A rare genetic syndrome involving features such as poor fetal growth, reduced fetal activity, developmental problems and various other physical symptoms.
  • Chromosome 2, monosomy 2pter p24: A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities.
  • Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
  • Chromosome 21, monosomy 21q22: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
  • Chromosome 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
  • Chromosome 22q11 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
  • Chromosome 3, trisomy 3q13 2 q25: A rare chromosomal disorder characterized by various abnormalities including hearing loss, mental retardation, short stature, obesity and uterine and facial anomalies.
  • Chromosome 4, Monosomy Distal 4q: A rare chromosomal disorder involving a deletion of the end portion of the long arm of chromosome 4. The symptoms are determined by the size and exact location of the deleted portion.
  • Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
  • Chromosome 7, monosomy 7q21: A rare chromosomal disorder characterized by mental retardation, short stature, facial anomalies and muscle and distal limb abnormalities.
  • Chromosome 7, monosomy 7q3: A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.
  • Chromosome 7, trisomy 7p13 p12 2: A rare chromosomal disorder where duplication of a portion of chromosome 7 causes various abnormalities such as short stature and mental retardation.
  • Chromosome 7, trisomy mosaic: A very rare chromosomal disorder where there is an extra copy of chromosome 7 in some of the body's cells. Most cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
  • Chromosome 9, trisomy 9q32: A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.
  • Chromosome Xp11.23-p11.22 Duplication syndrome: A rare syndrome characterized by the association of a large head, lack of hair, scoliosis and a skin anomaly. The reported patients tend to involve parents who were related.
  • Chudley syndrome 1: A rare syndrome characterized by mental retardation, obesity, hypogonadism and a distinctive mouth.
  • Chylomicron retention disease with Marinesco-Sjogren syndrome: A rare condition characterized by abnormal lipid metabolism, vitamin E deficiency, incoordination and short stature.
  • Citrulline transport defect: A rare metabolic disorder where citrulline is unable to be transported within the body which affects growth. In one case, a 19 year old had the height and weight of a 6 year old.
  • Clavicle, pseudoarthrosis of, congenital: A rare congenital condition where the collarbone doesn't develop normally.
  • Cleft palate -- coloboma -- deafness: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
  • Cleft palate -- short stature -- vertebral anomalies: A very rare syndrome characterized by a cleft palate, short stature and abnormalities of the vertebrae in the spine.
  • Cleidocranial dysplasia: A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption.
  • Cleidorhizomelic syndrome: A very rare inherited syndrome mainly involving skeletal abnormalities.
  • Coarse face -- hypotonia -- constipation: A very rare syndrome characterized by coarse facial features, poor muscle tone and constipation.
  • Cockayne syndrome type 1: A rare inherited condition characterized by short stature, light sensitivity and a prematurely aged appearance. Type 1 is an early-onset form and involves progressive symptoms that usually start after 1 year of age.
  • Cockayne syndrome type 2: A rare inherited condition characterized by severely impaired neurological development. Type 2 is a congenital form of the disorder and symptoms are apparent from birth.
  • Cockayne syndrome type 3: A rare inherited condition characterized by short stature, light sensitivity and a prematurely aged appearance. Type 3 is a late onset form of the disorder and symptoms occur in late childhood and tend to be mild.
  • Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
  • 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.
  • Collins-Dennis-Clarke-Pope Syndrome: A very rare condition characterized by congenital hip dislocation, flattened facial appearance and congenital heart defects.
  • Comel-Netherton Syndrome: A rare inherited condition characterized by abnormally formed hair shafts and a skin condition involving scaling and redness of the skin. Patients are also predisposed to developing allergic conditions such as asthma and eczema and food allergies. The severity of the condition can vary with some infants having a poor prognosis due to severe allergies, infections and skin problems whereas others have milder symptoms and fewer allergic manifestations.
  • Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome.
  • 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.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Congenital disorder of glycosylation type 1A: 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.
  • Congenital disorder of glycosylation type 2C: 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 2c is caused by a defect on chromosome 11p11.2 and involves a defect in the gene for GDP-fucose transporter.
  • Congenital disorder of glycosylation type X -- Bombay blood group phenotype: A rare inherited disorder characterized by abnormal neutrophil functioning which reduces the body's immunity. The abnormal neutrophils are unable to be transported to sites of infection due to their inability to adhere to certain blood vessel components which would normally lead them to the infection site. Infections may be life-threatening as the body is unable to destroy bacteria effectively. Type 2 LAD is where neutrophils can't adhere to necessary blood vessel components due to the absence of proteins on the blood vessel walls needed to bind and guide the neutrophils to the infection site.
  • Congenital fiber type disproportion: A rare inherited disease involving abnormalities in the growth of type I muscle fibers.
  • Congenital heart disease -- radio ulnar synostosis -- mental retardation: A very rare syndrome characterized mainly by heart disease at birth, fusion of forearm bones and mental retardation.
  • 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.
  • Cormier Rustin Munnich syndrome: Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency.
  • Corneal anesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Corneal anesthesia deafness mental retardation: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Corneal hypesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
  • Corneodermatoosseous syndrome: A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems.
  • Cortical blindness -- mental retardation -- polydactyly: A very rare syndrome characterized by mental retardation, extra fingers and vision loss.
  • Coxoauricular syndrome: A very rare syndrome characterized by skeletal and ear abnormalities, short stature and deafness.
  • Crandall syndrome: A very rare syndrome characterized by twisted hair, hearing loss and sex hormone deficiency.
  • Cranio-facio-cardio-skeletal dysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities.
  • Cranioacrofacial syndrome: A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies.
  • Craniodigital syndrome -- mental retardation: A very rare syndrome characterized by webbed fingers and toes, mental retardation and skull and facial anomalies.
  • Craniofacial dysostosis -- arthrogryposis -- progeroid appearence: A very rare syndrome characterized usually caused by fetal exposure to the cytomegalovirus and resulting in features such as short stature, mental retardation, joint movement problems and facial anomalies.
  • Craniofacial dyssynostosis: A very rare syndrome characterized primarily by the premature fusion of certain skull bones which gives the head an abnormal shape and also causes unusual facial features.
  • Craniofaciocardioskeletal syndrome: A very rare syndrome characterized by facial, skull, heart and skeletal abnormalities.
  • Craniofrontonasal Syndrome: A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement.
  • Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
  • Craniostenosis with congenital heart disease mental retardation: A very rare disorder characterized mainly by premature fusion of the sagittal skull bones, mental retardation and heart disease that is present at birth. The disorder generally involves other variable features.
  • Craniosynostosis -- alopecia -- brain defect: A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect.
  • Craniosynostosis -- congenital heart disease -- mental retardation: A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation.
  • Craniosynostosis -- intracranial calcifications: A rare syndrome characterized by the premature fusion of skull bones as well as abnormal calcifications inside the skull. The features of the disorder may vary.
  • Creatine deficiency, X-linked: A rare inherited disorder characterized mainly by mental retardation, seizures, short stature and facial anomalies. The disorder is caused by the absence of a compound needed to transport creatine and thus creatine levels may be normal or high, but the body is unable to utilize it.
  • Culler-Jones syndrome: A very rare syndrome characterized mainly by hypopituitarism (low pituitary hormone level) which affects other hormone levels and an extra little finger.
  • D ercole syndrome: A very rare syndrome characterized mainly by short stature, small head and heart defects.
  • Daentl-Townsend-Siegel syndrome: A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull.
  • Daentl-Towsend-Siegel syndrome: A very rare syndrome characterized blue sclerae, kidney disease and fluid buildup in the skull.
  • Dahlberg syndrome: A rare condition characterized by hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and short end bones in fingers and toes.
  • Dauwerse-Peters syndrome: A rare disorder characterized by short stature, unusual facial appearance, very short fingers and short toes as well as other skeletal anomalies.
  • Davis-Lafer syndrome: A very rare syndrome characterized mainly by mental retardation and unusual facial features.
  • De Barsy Syndrome: A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities.
  • De Hauwere Leroy Adriaenssens syndrome: A very rare syndrome characterized mainly by widely spaced eyes, deafness and an abnormality of the iris of the eye.
  • Deafness -- cataracts -- skeletal anomalies: A rare disorder characterized by deafness, cataracts and skeletal abnormalities as well as other anomalies.
  • Deafness -- epiphyseal dysplasia -- short stature: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thigh bone abnormalities.
  • Deafness neurosensory -- pituitary dwarfism: A very rare syndrome characterized by deafness and deficient sex hormone and pituitary hormone activity.
  • Deafness symphalangism: A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms. Joint ankylosis starts in early childhood and is progressive.
  • Deafness-mental retardation, Martin-Probst type: A rare disorder characterized mainly by deafness and mental retardation.
  • Del (2) (q24.3-q31): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q33-q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q34-q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q35-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q36-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q37.3-qter) and dup (8) (q24.3-qter)): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (p21.1-p13): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (q12-q21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (4) (pter-p16.3): A very rare chromosomal disorder where a portion of the short arm (pter-p16.3) of the genetic material on chromosome four is missing. The type and severity of symptoms can vary depending on the exact size and location of the deleted genetic material.
  • Del(1) (pter-p34): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
  • Del(1) (q44-qter): A very rare chromosomal disorder where a portion of the long arm (q44-qter) of chromosome one is missing. The type and severity of symptoms may vary.
  • Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
  • Deletion 10q: A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted.
  • Deletion 11q: A very rare genetic disorder characterized by the deletion of genetic material from the long arm (q) of chromosome 11 - the genetic material occurs only once in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the deleted genetic material.
  • Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
  • Dennis cohen syndrome: A rare syndrome characterized mainly by unusual facial appearance, mental retardation, short stature and sparse hair.
  • Dentinogenesis imperfecta -- short stature -- hearing loss -- mental retardation: A rare syndrome characterized by teeth anomalies (dentinogenesis imperfecta), short stature, hearing loss and mental retardation.
  • Desbuquois dysplasia-like syndrome: A rare syndrome characterized by various anomalies similar to Desbuquois syndrome but there is no mental retardation, hand abnormalities or facial anomalies involved.
  • Devriendt syndrome: A rare syndrome characterized mainly by Robin sequence, short stature and seizures.
  • DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
  • Diabetes insipidus, nephrogenic type 2: A rare congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. Type II is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
  • Diabetes insipidus, nephrogenic, dominant type: A rare dominantly inherited, congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. The condition is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
  • Diabetes insipidus, nephrogenic, recessive type: A rare recessively inherited, congenital condition where the kidney fails to respond to the antidiuretic hormone (arginine vasopressin), thus preventing reabsorption of water. This results in excessive urination and thirst. The condition is specifically caused by a defect in the AQP2 gene on chromosome 12q13.
  • 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.
  • Diastrophic dysplasia: A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities.
  • 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.
  • Distal arthrogryposis, Moore-Weaver type: A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities.
  • Distinctive Craniofacial Features -- Pterygia -- Mental Retardation: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
  • Dobrow syndrome: A very rare syndrome characterized mainly by abnormal webbing inside the mouth, short stature, eye problems, mental retardation and small head, jaw, eyes and mouth.
  • 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.
  • Dup (1) (q11-q22): A very rare chromosomal disorder where a portion of the long arm (q11-q22) of chromosome one is duplicated.
  • Dup (2) (pter-p23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (q11.2-q14.2): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (q11.2-q21.1): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p25): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in nine reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup(1) (p31-p21): A very rare chromosomal disorder where a portion of the short arm (p31-p21) of chromosome one is duplicated. The type and severity of symptoms is variable.
  • Dup(1) (p32-p21.2): A very rare chromosomal disorder where a portion of the short arm (p32-p21.2) of chromosome one is duplicated. The type and severity of symptoms is variable.
  • Dup(1) (q24-q41): A very rare chromosomal disorder (two reported cases) where a portion of the long arm (q24-q41) of chromosome one is duplicated. The type and severity of symptoms may vary - one patient died soon after birth whereas the other survived with severe problems.
  • Dwarfism: Short stature. There are several types of dwarfism: acromelic (short hand and foot bones), mesomelic (short forearm and lower leg bones) and rhizomelic (short upper arm and leg bones).
  • Dwarfism -- bluish sclerae: A form of dwarfism that also involves the presence of bluish sclera (due to abnormally thin sclera).
  • Dwarfism -- stiff joint -- ocular abnormalities: A very rare form of dwarfism characterized by short stature as well as stiff joints and eye abnormalities.
  • Dwarfism -- tall vertebrae: A rare form of dwarfism characterized by short stature as well as unusually tall vertebrae and hip deformities.
  • Dwarfism -- thin bones -- multiple fractures: A rare form of dwarfism characterized by short stature as well as thin bones that are prone to fractures.
  • Dyggve-Melchior-Clausen Syndrome: A rare genetic bone growth disorder characterized by short stature and other skeletal deformities.
  • Dyschondrosteosis: A bone dysplasia which causes bowing of the radius and dislocation of the ulna and carpal bones
  • Dyschondrosteosis -- nephritis: A very rare syndrome characterized mainly by abnormal bone development and kidney disease.
  • Dysequilibrium syndrome: A very rare syndrome characterized mainly by mental retardation and nonprogressive incoordination.
  • Dysmorphism -- abnormal vocalization -- mental retardation: A very rare syndrome characterized mainly by mental retardation, facial abnormalities and an abnormal voice.
  • Dysosteosclerosis: A rare inherited condition characterized by bone development abnormalities (excessive hardening of bone and flattened vertebrae), characteristic facial features. Excessive bone growth at the base of the skull can damage the optic nerves and affect vision.
  • Dysostosis: Defective bone development. It can result in missing bones, extra bone, shortened bones or other bone abnormalities. Further symptoms depend on the type of abnormality.
  • Dysostosis acral with facial and genital abnormalities: A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Robinow syndrome tends to be milder than the recessive form.
  • Dysplastic cortical hyperostosis: A very rare syndrome characterized mainly by abnormal bone and brain development.
  • Dyssegmental dysplasia: Any of a group of disorders characterized mainly by severe skeletal abnormalities. The type and severity of symptoms is variable as are the associated symptoms.
  • 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.
  • East Syndrome: A rare syndrome characterized mainly by mental retardation, deafness, ataxia and electrolyte imbalance.
  • Ectodermal dysplasia -- arthrogryposis -- diabetes mellitus: A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities.
  • Ectodermal dysplasia -- blindness: A rare syndrome characterized mainly be mental retardation, vision loss, short stature and teeth and hair abnormalities.
  • Ectodermal dysplasia -- hypohidrotic -- hypothyroidism -- ciliary dyskinesia: A rare syndrome characterized by alopecia (A), nail problems (N), eye problems (O - ophthalmic), thyroid dysfunction (T), reduced sweating (H - hypohidrosis), freckles (E-ephelides), intestinal disease (E - enteropathy) and respiratory tract infections (R).
  • Ectodermal dysplasia -- neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
  • Ectodermal dysplasia with natal teeth, Turnpenny type: A rare syndrome characterized mainly by missing teeth, sparse hair and dark velvety skin patches called acanthosis nigricans. The skin patches usually disappears during the second decade and may reoccur during pregnancy.
  • Ectodermal dysplasia, Berlin type: A rare syndrome characterized mainly by the absence of many or all teeth, a lack of hair, mental retardation and skin abnormalities.
  • Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
  • Ehlers-Danlos syndrome, progeroid form: A connective tissue disorder caused by an enzyme (xylosylprotein 4-beta-galactosyl transferase) deficiency.
  • Ehlers-Danlos syndrome, progeroid form 2: A rare genetic connective tissue disorder characterized by hypermobile joints, fragile skin, mental retardation and short stature.
  • Ellis-van Creveld syndrome:
  • Empty Sella Syndrome: Congenital defect of the brain.
  • Encephalopathy -- intracranial calcification -- growth hormone deficiency -- microcephaly -- retinal degeneration: A rare condition characterized mainly by brain disease, poor growth due to a deficiency of growth hormone, a small head and vision impairment.
  • Enchondromatosis-dwarfism-deafness: A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development.
  • Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
  • Engelhard-Yatziv syndrome: A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities.
  • 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.
  • Epilepsy -- telangiectasia: A rare syndrome characterized by the association of epilepsy with telangiectasias on the conjunctiva of the eyelids.
  • Epimetaphyseal skeletal dysplasia: A rare syndrome characterized mainly by abnormal bone development.
  • Epiphyseal dysplasia -- hearing loss -- dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
  • Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
  • Epiphyseal dysplasia, multiple: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. There are 6 different subtypes of the disease, with each caused by a mutation in a different gene.
  • Epiphyseal dysplasia, multiple, 1: Abnormalities in the ends of a number of bones resulting in the early onset of osteoarthrosis and joint pain. It is caused by a defect in the gene for COMP which is a cartilage protein.
  • Epiphyseal stippling syndrome -- osteoclastic hyperplasia: A rare syndrome characterized by abnormal bone development primarily affecting the long bones and lower spine.
  • Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.
  • 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.
  • Extrasystoles -- short stature -- hyperpigmentation -- microcephaly: A rare syndrome characterized mainly by shortness, increased skin pigmentation, small head and
  • Eye defects -- arachnodactyly -- cardiopathy: A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease.
  • FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
  • FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
  • FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
  • FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
  • FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
  • FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
  • FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
  • Facio-auriculo-radial dysplasia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Faciodigitogenital syndrome, recessive form: A rare syndrome characterized by facial, digital and genital abnormalities.
  • Failure To Thrive: Slow growth or inadequate weight gain of an infant or child.
  • Fanconi pancytopenia: A rare genetic disorder characterized by upper limb defects and kidney abnormalities.
  • Fara-Chlupackova syndrome: A rare syndrome characterized mainly by ear, face and neck abnormalities.
  • Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.
  • Femur-fibula-ulna syndrome: A very rare syndrome characterized mainly by abnormalities of the thigh, forearm and calf bone. The degree of abnormality and number of limbs involved is variable. The upper limbs are affected more than the lower limbs and the right side is affected more than the left side.
  • Fenton-Wilkinson-Toselano syndrome: A rare syndrome characterized mainly by ataxia, light sensitivity and short stature.
  • Fernhoff-Blackston-Oakley syndrome: A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities.
  • Fetal methylmercury syndrome: Fetal exposure to methyl mercury which can pass from the mother to the fetus through the placenta.
  • Fibrochondrogenesis: A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
  • Fibula aplasia complex -- brachydactyly: A very rare syndrome characterized mainly by short fingers small or absent fibula (calf bone) and other bone abnormalities.
  • Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
  • Fitzsimmons-Guilbert syndrome: A very rare syndrome characterized mainly by paraplegia, short fingers and bone abnormalities. The paraplegia progresses slowly.
  • Fitzsimmons-Walson-Mellor syndrome: A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness.
  • Fleisher syndrome: A rare inherited condition characterized by a deficiency of growth hormones and reduced blood levels of antibodies in the blood.
  • Foot conditions: Any condition that may affect the foot
  • Forbes disease: A rare inherited glycogen storage disease caused by a deficiency of the enzyme amylo-1,6-glucosidase resulting in a build up of glycogen in the liver and muscles.
  • Forney Robinson Pascoe syndrome: A rare condition characterized by skeletal abnormalities, deafness and mitral regurgitation.
  • Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
  • Fraser-Jequier-Chen syndrome: A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis).
  • Frias syndrome: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
  • Froelich's syndrome: A rare condition where an endocrine abnormality (caused by such things as a pituitary tumor or damage to the hypothalamus) affects hormone levels which results in a variety of symptoms.
  • Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
  • Fryns-Smeets-Thiry syndrome: A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities.
  • 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.
  • GEMSS syndrome: A rare syndrome characterized mainly by stiff joints, short stature, glaucoma and a dislocated eye lens.
  • Gangliosidosis, generalized GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
  • Garret-Tripp syndrome: A rare syndrome characterized mainly by extra digits, a lack of hair and scaly skin on the scalp, face and neck.
  • Gay-Feinmesser-Cohen syndrome: A very rare syndrome characterized mainly by short stature, congenital heart disease and an abnormal membrane of tissue across the larynx.
  • Geleophysic dwarfism: A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities.
  • Generalized lipodystrophy with mental retardation, deafness, short stature and slender bones: A recessively inherited disorder characterized by short stature, mental retardation, deafness, slender bones and degeneration of the body's fat tissue.
  • 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.
  • Gitelman syndrome: A rare, relatively mild, genetic kidney disorder that causes hypokalemia. The defective gene (NCCT) impairs the function of the Na-Cl cotransporter.
  • Glaucoma ectopia microspherophakia stiff joints short stature: A rare, dominantly inherited syndrome characterized mainly by stiff joints, short stature, glaucoma and a dislocated eye lens.
  • Glomerulonephritis -- sparse hair -- telangiectases: A rare syndrome characterized by sparse hair, kidney disease and enlarged skin blood vessels (telangiectasia).
  • Gloomy syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
  • Glycogen branching deficiency: A rare metabolic disorder where an enzyme deficiency (glycogen branching enzyme) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
  • Glycogen debranching deficiency: A rare metabolic disorder where an enzyme deficiency (amylo-1,6-glucosidase) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
  • Gms syndrome: A rare syndrome characterized by mental retardation, short stature and an eye abnormality.
  • Goldberg-Shprintzen megacolon syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
  • Gollop syndrome: A rare syndrome characterized mainly by eye, ear, facial and nasal abnormalities.
  • Gomez and Lopez-Hernandez syndrome: A rare genetic condition characterized by various abnormalities such as mental deficiency, small head, short stature, eye problems and movement problems.
  • Gonadal dysgenesis XY type associated anomalies: A very rare syndrome characterized mainly by a large range of variable physical abnormalities and gonad anoamlies.
  • Gracile bone dysplasia: An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities.
  • Grant syndrome: A rare genetic condition characterized by short stature, skeletal abnormalities and blue sclerae.
  • Greenberg dysplasia: A very rare form of short-limbed dwarfism.
  • Grix-Blankenship-Peterson syndrome: A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities.
  • Growth Hormone Deficiency: A deficiency in growth hormone which results in poor growth.
  • Growth Hormone Receptor Deficiency: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Growth deficiency brachydactyly unusual facies: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
  • Growth delay due to insulin-like growth factor I resistance: A rare genetic disorder where there is sufficient growth hormone produced but the body is insensitive or unable to respond to it.
  • Guizar-Vasquez-Luengas syndrome: A rare inherited syndrome characterized by corneal dermoids and short stature.
  • Guizar-Vasquez-Sanchez-Manzano syndrome: A rare syndrome characterized by loose joints, chest deformity and unusual facial appearance.
  • Gurrieri-Sammito-Bellussi syndrome: A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities.
  • Hallermann-Streiff Syndrome: A condition which affects stature, head shape and hair growth
  • Hand conditions: Any condition that affects the hand
  • Harper dwarfism: A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome.
  • Haspeslagh Fryns Muelenaere syndrome: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
  • Heart defects -- limb shortening: A very rare syndrome characterized mainly by short limbs and heart defects.
  • Herrmann Opitz arthrogryposis syndrome: A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature.
  • Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
  • Howard-Young syndrome: A very rare syndrome characterized mainly by a small head, facial cleft and an extra big toe.
  • Hoyeraal-Hreidarsson syndrome: A very rare syndrome characterized mainly by retarded growth, a small head, anemia, immunodeficiency and an underdeveloped brain (cerebellum).
  • Humerospinal dysostosis -- congenital heart disease: A very rare syndrome characterized mainly by various skeletal defects and heart disease which is present at birth.
  • Hunter-Carpenter-Macdonald syndrome: A very rare syndrome characterized by various abnormalities including small head, facial anomalies, mental retardation and hair, skin and nail anomalies. Fetal exposure to alcohol is believed to be a factor in the syndrome.
  • Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
  • Hunter-McAlpine syndrome: A very rare dominantly inherited syndrome characterized mainly by premature fusion of skull bones, mental retardation, small mouth, short stature and finger and toe anomalies.
  • Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
  • Hutterite cerebroosteonephrodysplasia syndrome: A very rare disorder characterized by short stature and a severe degenerative brain disorder.
  • Hydrocephalus obesity hypogonadism: A very rare syndrome characterized mainly by obesity, buildup of fluid inside the skull (hydrocephalus) and impaired sex hormone production.
  • 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.
  • Hyperparathyroidism, neonatal severe primary: A very rare disorder where high levels of parathyroid levels affects the body's use of calcium. The bones lack sufficiency calcification and become weak.
  • Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, And Hypogonadism: A rare syndrome characterized by various skin and nail anomalies as well as other problems.
  • Hypogonadism: Medical term for a defect of the reproductive system that results in lack of function of the gonads (ovaries or testes).
  • Hypogonadism -- mitral valve prolapse -- mental retardation: A very rare syndrome characterized mainly by a heart disorder, hypogonadism and mental retardation.
  • Hypogonadism hypogonadotropic due to mutations in GR hormone: Hypogonadism hypogonadotropic due to mutations in GR hormone is a condition where defects in the gene for gonadotropin-releasing hormone results in problems with sexual maturation during development. The symptoms may vary in severity depending on the degree of mutation.
  • Hypogonadotropic hypogonadism -- syndactyly: A very rare syndrome characterized mainly by webbed toes and reduced gonad function.
  • Hypomelanosis of Ito: A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities.
  • Hypoparathyroidism -- short stature -- mental retardation: A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation.
  • Hypoparathyroidism X-linked: Low parathyroid levels inherited in a X-linked manner and hence only males are symptomatic and females are asymptomatic carriers.
  • Hypoparathyroidism familial isolated: A rare familial condition involving low levels of parathyroid hormone which upsets the body's ability to regulate calcium and phosphate. The severity of symptoms is determined by the how low the parathyroid hormone level is.
  • 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.
  • Hypopituitarism postaxial polydactyly: A very rare syndrome characterized mainly by hypopituitarism (low pituitary hormone level) which affects other hormone levels and an extra little finger.
  • Hypopituitary dwarfism: Short stature caused by low pituitary hormone levels which reduced growth hormone levels. Low pituitary hormone levels may be caused by genetic factors or acquired through brain infections, trauma or certain diseases.
  • Hypotelorism -- cleft palate -- hypospadias: A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes.
  • Hypothyroidism -- dermoid cyst -- cleft palate: A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities.
  • IBIDS syndrome: A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve photosensitivity.
  • ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.
  • Ichthyosis and male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
  • Ichthyosis male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
  • Immunodeficiency due to defect in MAPBP-interacting protein: A rare recessively inherited disorder caused by a defect in the gene for MAPBP-interacting protein on chromosome 1q22 which affect the immune system. The condition manifests as short stature, reduced skin pigmentation, coarse facial features and recurring respiratory infections due to susceptibility to Streptococcus pneumoniae.
  • Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
  • Intellectual deficit -- cataracts -- calcified pinnae -- myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Intellectual deficit -- multiple anomalies: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
  • Intellectual deficit -- short stature -- microcephaly -- eye anomalies: A very rare syndrome characterized by the association of mild mental retardation, short stature, a small head and eye anomalies.
  • Iris dysplasia hypertelorism deafness: A very rare syndrome characterized mainly by widely spaced eyes, deafness and an abnormality of the iris of the eye.
  • Iris dysplasia with ocular hypertelorism, psychomotor retardation and sensorineural deafness: A rare syndrome characterized by wide-set eyes, psychomotor retardation, deafness and an eye abnormality.
  • Ischiadic hypoplasia -- renal dysfunction -- immunodeficiency: A rare disorder characterized by abnormal kidney function, immunodeficiency and an underdeveloped
  • Isolated Growth Hormone Deficiency, Type IB:
  • 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.
  • Jeune syndrome: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
  • Jorgenson-Lenz syndrome: A very rare syndrome characterized mainly by joint problems, mental retardation and various eye and other anomalies.
  • Juberg-Hayward syndrome: A rare hereditary disorder characterized by a growth hormone deficiency as well as mouth and limb abnormalities.
  • Juberg-Marsidi syndrome: A very rare inherited disorder characterized by severe mental retardation, delayed developmental milestones, muscle problems and growth retardation. The range and severity of symptoms is variable.
  • 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 macular degeneration and hypotrichosis: A very rare syndrome characterized mainly by hair loss and eye degeneration.
  • Juvenile macular degeneration, hypotrichosis: A very rare syndrome characterized mainly by hair loss and eye degeneration.
  • KBG Syndrome: A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.
  • Kantaputra-Gorlin syndrome: A rare congenital disorder characterized by fusion of bones in the wrists and ankles as well as other bone development abnormalities in the limbs.
  • Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
  • Kaplowitz-Bodurtha syndrome: A very rare syndrome characterized mainly by reduced pituitary hormone production and small eyes.
  • Kashani-Strom-Utley syndrome: A very rare syndrome characterized mainly by a narrowed pulmonary aorta and urinary obstructive disease.
  • Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
  • Kennerknecht syndrome: A very rare syndrome characterized mainly by absent gonads, mental retardation, short stature, retarded bone age and heart abnormalities. The observed cases involved a family whose parents were related.
  • Kennerknecht-Vogel syndrome: A very rare syndrome characterized mainly by absent gonads, mental retardation, short stature, retarded bone age and heart abnormalities.
  • Keratosis follicularis -- dwarfism -- cerebral atrophy: A very rare syndrome characterized mainly by dwarfism, brain degeneration and a hair follicle disorder.
  • King-Denborough syndrome: A rare birth disorder characterized by musculoskeletal abnormalities and nerve muscle problems.
  • Klippel Feil deformity conductive deafness absent vagina: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
  • Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
  • Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
  • Kozlowski-Celermajer syndrome: A rare disorder characterized by congenital heart disease and spine and upper arm bone abnormalities.
  • Laron Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron Pituitary Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron Type Pituitary Dwarfism 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron syndrome type 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron syndrome type 2: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron-type Dwarfism Phenotypic Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
  • Laron-type dwarfism: A rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results.

 

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