Glossary for Hair symptoms

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

• $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $3?-hydroxysteroid dehydrogenase deficiency$: A ver rare form of congenital adrenal hyperplasia involving a deficiency of 3?-hydroxysteroid dehydrogenase which results in reduced production of adrenal steroids (mineralocorticoids, sex steroids and glucocorticoids). The disorder can occur in classical, non-salt wasting and late-onset varieties.
• $49,XXXXX syndrome$: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
• ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• ADULT syndrome: A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities.
• AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
• Aarskog-Ose-Pande syndrome: A rare disorder involving lipodystrophy mainly in the face and buttocks as well as sparse hair, retarded bone age and minor face and eye anomalies. It is considered a variant of SHORT syndrome which tends to also include increased range of joint motion and more extensive lipodystrophy.
• Ablepharon macrostomia syndrome: A rare disorder involving a number of mainly physical abnormalities.
• Ablinism I syndrome: A recessively inherited form of albinism involving the complete lack of skin, hair and eye pigments.
• Accutane - Teratogenic Agent: There is strong evidence to indicate that the use of Accutane during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Achard-Thiers Syndrome: A rare hormonal disorder that occurs in diabetic postmenopausal women where body hair grows in a masculine manner. Hormonal therapy is used to correct the endocrine imbalance.
• Ackerman syndrome: An extremely rare condition characterized primarily by glaucoma, upper lip deformity and abnormal tooth roots.
• Acquired hypothyroidism: Acquired hypothyroidism is a condition where the thyroid gland makes too little or no thyroid hormone. Acquired hypothyroidism can be caused by both thyroid disease (primary hypothyroidism) and hypothalamic-pituitary disease (central hypothyroidism)
• Acquired progressive kinky hair: An acquired hair condition involving the progressive kinking of hair. It often precedes the early stages of male pattern alopecia.
• Acrocephalopolydactyly - Cardiac Disease - Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• 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, 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.
• Acromegaloid hypertrichosis syndrome: A rare genetic condition characterized by excess body hair and a coarse face. The severity of the condition is variable.
• Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
• Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
• Adrenal Cancer: A malignant cancer that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids. Adrenalin and noradrenalin are the hormones made in the medulla (central part of the adrenal gland).
• Adrenal Cortex Diseases: Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue.
• Adrenal Cortex Neoplasms: A tumor that develops in the adrenal gland. The tumor may be nonfunctioning (does not produce hormones) or functioning in which case excessive levels of hormones can cause a variety of symptoms depending on which hormone is involved. Adrenal hormones made in the cortex (outer part of the gland) are aldosterone, corticosteroids and androgenic steroids.
• Adrenal Hyperplasia, Congenital (General): Congenital adrenal hyperplasia is an inherited condition characterized by adrenal insufficiency. It is caused by a deficiency in an enzyme needed to produce certain adrenal hormones such as cortisol and aldosterone.
• 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 gland symptoms: Symptoms affecting the adrenal glands
• 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.
• Aging: The medical conditions from getting older.
• Albinism-deafness of Tietz: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.
• 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: Partial or total loss of hair due to aging, an endocrine disorder, drug reaction, anticancer medication or skin disease.
• Alopecia Areata: A condition where hair loss occurs in patches for unknown reasons. Although the condition often disappears within a year, it often reoccurs.
• Alopecia Totalis: An autoimmune disorder where there is a total loss of all head hair i.e. complete baldness.
• Alopecia immunodeficiency: A rare syndrome characterized by alopecia and primary immunodeficiency.
• Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
• Alopecia universalis: Complete loss of all body hair.
• Alopecia, epilepsy, pyorrhea, mental subnormality: A rare syndrome characterized by alopecia, epilepsy, mental retardation and pus-producing gum and tooth inflammations.
• Alopecia, mental retardation and neurological problems: A rare, newly described syndrome characterized by baldness, mental retardation and neurological problems.
• Alopecia-contractures-dwarfism-mental retardation: A rare syndrome characterized primarily by mental retardation, short stature, lack of hair and contractures.
• Alstrom syndrome: A rare, hereditary genetic disorder which is progressive. Initial symptoms in infants are usually extreme light sensitivity, wobbling of the eyes and sometimes dilated dilated cardiomyopathy and congestive heart failure. Young children quickly gain weight and become obese and as they get older, multiple organ systems may be affected causing blindness, hearing loss, type 2 diabetes, heart failure, liver disease, urological dysfunction, pulmonary fibrosis and renal failure.
• Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
• Amaurosis hypertrichosis: A rare syndrome characterized by severe retinal dystrophy and excessive growth of hair.
• Ambras syndrome: A rare genetic disorder characterized by overgrowth of hair over the whole body, especially the face and shoulders.
• Amelo-onycho-hypohidrotic syndrome: A rare disorder characterized primarily by tooth and nail abnormalities and reduced sweating ability.
• Amish brittle hair syndrome: A rare inherited condition characterized by brittle hair, mental and physical impairment, decreased fertility and short stature.
• Androgen Insensitivity Syndrome: Females with male XY genetics but inability to respond to testosterone.
• Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
• Angiokeratoma - mental retardation - coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
• Anorexia Nervosa: A disorder where a distorted sense of body image leads to self-starvation to the point of death in some cases.
• Aplasia cutis congenital - intestinal lymphangiectasia: A rare disorder characterized by a skin defect and dilated intestinal lymph vessels.
• Arctic bearded seal poisoning: The Arctic Bearded seal is often used as a food source by the arctic inhabitants. Eating the liver and kidneys of the arctic bearded seal can result in a Vitamin A overdose which can cause serious symptoms and even death in extreme cases. It is believed that eating more than 100-250 grams of the seal liver can result in human death.
• Argininosuccinase lyase deficiency, neonatal: A rare inherited urea cycle disorder caused by lack of enzymes (argininosuccinase lyase) needed to turn ammonia into urea resulting in excess ammonia in the body. The neonatal form of the condition can result in death or severe complications if not treated early enough.
• Argininosuccinic aciduria: A rare inherited disorder of the urea cycle characterized by the lack of an enzyme (argininosuccinate lyase) which is needed to remove nitrogen from the body so a lack of the enzyme leads to a build-up of ammonia in the blood.
• Arthrogryposis - epileptic seizures - migrational brain disorder: A rare disorder characterized by congenital joint contractures, epileptic seizures and brain development abnormalities. It can be caused by fetal exposure to alcohol or chemical products.
• Arthrogryposis IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
• Ataxia Telangiectasia: A rare inherited childhood disorder involving progressive degeneration of the nervous system.
• Atrichia - mental and growth delay: A rare syndrome characterized mainly by mental retardation, growth delay and the absence of hair.
• Australian Sea Lion poisoning: The Australian Sea Lion is sometimes used as a food source and is found in the South-Southwest waters of Australia. Eating the liver of the Australian Sea Lion can result in a Vitamin A overdose which can cause serious symptoms and even death in extreme cases.
• Autoimmune polyendocrinopathy syndrome, type 1: A very rare autoimmune disorder characterized by autoimmune polyendocrinopathy (APE), candidiasis (C) and ectodermal dysplasia (ED).
• Autoimmune thyroid diseases: Autoimmune diseases of the thyroid gland.
• Autumn crocus poisoning: The Autumn crocus is a perennial herb which bears purplish-pink flowers. The plant is often used as an ornamental indoor or outdoor plant. The plant contains a chemical called colchicine which can be very poisonous if eaten. The plant is considered to be very toxic if eaten. Boiling the leaves before eating them appears to increase their toxicity. Most cases of poisoning are through accidental ingestion. The plant is sometimes mistaken for wild garlic.
• BIDS syndrome: A rare inherited condition characterized by brittle hair (B), mental and physical impairment (I), decreased fertility (D) and short stature (S).
• Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
• Bald: A condition which is characterized by the loss of hair in an anatomical location
• Baldness: Loss of scalp hair
• 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.
• Bamforth syndrome: A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning.
• Barber's rash: Skin infection in facial hair areas
• Basaran-Yilmaz syndrome: A very rare syndrome characterized by reduced body hair, thickened skin on various parts of the body and the presence of white nails at birth.
• Baughman syndrome: A rare syndrome characterized mainly by fused eyelids, curly hair and abnormal nails.
• Bazex-Dupre-Christol syndrome: A very rare syndrome characterized by decreased hair growth, basal cell cancers and destruction of skin follicles which tends to affect the extremities, elbows and knees.
• Bearn-Kunkel syndrome: A type of autoimmune liver disease characterized by liver damage, very high blood gammaglobulin levels and increased plasma cells.
• Ben-Ari-Shuper-Mimouni syndrome: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
• Berardinelli-Seip congenital lipodystrophy: A rare genetic disorder characterized by diabetes mellitus, loss of body fat, hepatomegaly, enlarged genitals, increased skeletal growth and other abnormalities.
• Berardinelli-Seip congenital lipodystrophy, type 1: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 1 is distinguished from type 2 by the origin of the genetic defect. Type 1 is caused by a defect on the AGPAT2 gene on chromosome 9q34.3. Type 1 seems to be less severe with some cases of type 2 resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
• Berardinelli-Seip congenital lipodystrophy, type 2: A rare genetic disorder characterized by early-onset diabetes mellitus, loss of body fat, serious insulin resistance, high blood triglycerides and fatty liver. Type 2 is distinguished from type 2 by the origin of the genetic defect. Type 2 is caused by a defect on the BSCL2 gene on chromosome 11q13. Type 2 seems to be more severe with some cases resulting in premature death which can occur as early as the first year of life. Type 2 also involves mental retardation which is not seen in type 1.
• 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.
• Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
• Biotin deficiency: Vitamin H deficiency
• Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
• Bird-headed dwarfism, Montreal type: A rare condition characterized by dwarfism and a characteristic beak-shaped nose.
• Bjornstad syndrome: An inherited condition characterized by twisted hairs and nerve deafness.
• Black hairy tongue: The occurrence of a hairy tongue where the papillae are brown or black
• Blepharitis: A common eyelid inflammation
• Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
• Brittle hair: A condition which is characterized by the occurrence of brittle hair
• Brittle hair - mental deficiency: A rare inherited disease characterized by brittle hair, mental retardation and fragile nails.
• Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
• 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.
• C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
• 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.
• Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
• Cantu Sanchez-Corona Garcia-cruz syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
• Capecitabine poisoning: Capecitabine is used to treat metastatic colorectal and breast cancer . Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Carbon Baby Syndrome: A rare condition characterized by progressive increase in pigmentation of mucosal lining and skin.
• Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
• Cataract - aberrant oral frenula - growth delay: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
• Celiac disease, susceptibility to 1: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6p21.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 10: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q25-q26. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 11: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3q28. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 12: The susceptibility to developing celiac disease due to a genetic defect on chromosome 6q25.3. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 13: The susceptibility to developing celiac disease due to a genetic defect in the SH2B3 gene on chromosome 12q24. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 2: The susceptibility to developing celiac disease due to a genetic defect on chromosome 5q31-q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 3: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q33. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 4: The susceptibility to developing celiac disease due to a genetic defect on chromosome 19p13.1. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 5: The susceptibility to developing celiac disease due to a genetic defect on chromosome 15q11-q13. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 6: The susceptibility to developing celiac disease due to a genetic defect on chromosome 4q27. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 7: The susceptibility to developing celiac disease due to a genetic defect on chromosome 1q31. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 8: The susceptibility to developing celiac disease due to a genetic defect on chromosome 2q11-q12. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Celiac disease, susceptibility to 9: The susceptibility to developing celiac disease due to a genetic defect on chromosome 3p21. Celiac disease is a small intestine disorder where the ingestion of foods containing wheat gluten and similar proteins leads to the inflammation of the small intestine lining. This damage affects absorption of nutrients and can cause symptoms such as diarrhea. Growth in children due to malabsorption may also result. The type and severity of symptoms is variable.
• Cerebellar ataxia - ectodermal dysplasia: A rare syndrome characterized by balance and coordination problems and teeth and hair abnormalities.
• Cervicooculoacoustic syndrome: A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck.
• Chemical poisoning - Borates: Borate is a chemical used in a wide variety of products - herbicides, paints, insecticides, rodenticides and various personal products such as skin creams, toothpastes and powders. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Hexachlorobenzene: Hexachlorobenzene is a chemical used mainly in seed treatments. The chemical may be absorbed through the skin. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Thallium Sulfate: Thallium Sulfate is a chemical used mainly in the manufacture of switches and closures in the semiconductor industry. It has historically also been used as a rodenticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Christianson Fourie syndrome: A very rare syndrome characterized mainly by hair and nail abnormalities.
• 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 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, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
• Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
• Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 16p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 16q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in spontaneous abortion or infant death.
• Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
• Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
• Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
• Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
• Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
• Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
• Chromosome 3, Trisomy 3q2: A rare chromosomal disorder involving the duplication of a portion of the long arm of chromosome 3. The symptoms are determined by the size and exact location of the duplicated portion.
• Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
• Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
• Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
• Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 9, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
• Chromosome 9, 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 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
• Cleft lip palate - oligodontia - syndactyly - pili torti: A very rare syndrome characterized by a cleft lip and palate, webbed fingers, missing teeth and hair abnormality (pili torti).
• Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism: A rare syndrome characterized by the association of curly, choanal atresia, cleft palate and congenital hypothyroidism.
• Coarse hair: The occurrence of coarse feeling hair
• Cockayne syndrome: A rare genetic disorder characterized by a senile-like appearance, hearing and vision impairment and sun sensitive skin.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Coffin-Siris Syndrome: A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features.
• Coleman Randall syndrome: A rare condition (one reported case) characterized by deafness, underdeveloped gonads, pili torti and a deficiency of growth and luteinizing hormone.
• Coloboma - hair abnormality: A very rare syndrome characterized mainly by hair and eye abnormalities.
• 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.
• Congenital adrenal hyperplasia - non-classical form: A late onset form of congenital adrenal hyperplasia where insufficient adrenal corticosteroids are produced by the body due to the deficiency of a particular chemical. The severity of symptoms varies from person to person and onset may occur as early as childhood.
• Congenital alopecia X-linked: A rare inherited form of reduced or absent of scalp hair from infancy. As it is X-linked it tends to affect males only.
• Congenital disorder of glycosylation type 1M: 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 Im is caused by a defect on chromosome 9q34.11 and involves a defect in the TMEM15 gene.
• Congenital hypotrichosis milia: A rare inherited disorder characterized by reduced hair from birth and the development of numerous milia which tend to disappear by adolescence. The milia occur on the face, chest, armpits and genital area.
• Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
• 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.
• Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
• Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
• Corpus callosum agenesis double urinary collecting: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
• Corpus callosum agenesis double urinary collecting system and trigonocephaly: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
• Cortes-Lacassie syndrome: A rare syndrome characterized by nail, hair and teeth abnormalities, malformed hands and feet and seizures. The disorder has only been reported in one cause which resulted in death at 31 months
• Costello syndrome: A rare genetic disorder characterized by papillomas which may become malignant.
• Cote-Katsantoni syndrome: A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation.
• Cranioectodermal dysplasia: A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities.
• Craniolenticulosutural dysplasia: A rare syndrome characterized by skeletal defects and an unusual facial appearance consisting mainly of a prominent forehead, wide-set eyes, broad nose and a prominent forehead with a birthmark.
• Cronkhite-Canada disease: A rare condition characterized primarily by polyps in the digestive tract, hair loss and nail problems.
• Crumpled helices and small mouth: A very rare condition observed in two sibling and characterized by the association of a small mouth and crumpled ear helices.
• Cushing syndrome, familial: A hormonal disorder caused by high levels of the cortisol hormone due to the abnormal development of the adrenal gland.
• Cushing-like symptoms: Symptoms similar to those of Cushing's disease
• Dandruff: Scaly and dry material that is shed from the scalp
• Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
• Deafness - pili torti -hypogonadism: An inherited condition characterized by twisted hairs, hypogonadism and nerve deafness.
• Dennis cohen syndrome: A rare syndrome characterized mainly by unusual facial appearance, mental retardation, short stature and sparse hair.
• Dermatomyositis: A muscle disease characterized by chronic muscle inflammation resulting in progressive muscle weakness and a characteristic rash.
• Dermo-odontodysplasia: A very rare syndrome characterized mainly by tooth, skin, hair and nail abnormalities.
• Diarrhea chronic with villous atrophy: A very rare metabolic disorder which causes abnormalities in the intestinal lining which results in chronic diarrhea. The reported patients died at 12 years of age and suffered a variety of other problems.
• 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.
• Discoid lupus erythematosus: Form of lupus affecting the skin.
• Dry hair: A condition which is characterized by a dry texture to ones hair
• Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
• Duplication 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Dyskeratosis Congenita: A rare genetic disorder characterized by sking pigmentation abnormalities, nail dystrophy and mucous membrane changes.
• Dyskeratosis congenita of Zinsser-Cole-Engman: An inherited condition characterized by recurring painful mouth ulcers, skin pigmentation and nail abnormalities.
• Dystrophic epidermolysis bullosa: A rare inherited skin blistering condition which can vary in severity depending on how it is inherited. Recessively inherited are more severe than dominantly inherited cases and can cause the loss of patches of skin and scarring which can impair limb function.
• EEC syndrome: A rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
• Ectodermal dysplasia: A group of rare inherited conditions which affect the ectodermal skin layer which includes the skin, hair, teeth and nails.
• Ectodermal dysplasia - alopecia - preaxial polydactyly: A rare syndrome characterized by facial abnormalities, extra toes and sparse or absent hair.
• 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 - ectrodactyly - macular dystrophy: A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers.
• Ectodermal dysplasia - hypohidrotic - hypothyroidism - ciliary diskinesia: 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 - mental retardation - CNS malformation: A rare syndrome characterized mainly by mental retardation, central nervous system disorders and skin, hair and nail abnormalities.
• Ectodermal dysplasia - mental retardation - central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
• Ectodermal dysplasia - neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
• Ectodermal dysplasia anhidrotic: A rare inherited condition involving skin, hair, teeth and nail abnormalities. The condition is characterized by the absence of sweat and sebaceous glands, underdeveloped hair and teeth, characteristic face and other physical deformities.
• Ectodermal dysplasia mental retardation syndactyly: A rare syndrome characterized by mental retardation, webbed fingers and hair, nail and teeth abnormalities.
• Ectodermal dysplasia trichoodontoonychial type: A rare syndrome characterized by nail, tooth and hair abnormalities.
• 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, 'pure' hair-nail type: A rare syndrome characterized mainly by greatly reduced hair on the scalp, eyelashes and eyebrows as well as abnormal nails.
• 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.
• Ectodermal dysplasia, Margarita type: A rare genetic disorder characterized by mental retardation, webbed digits, cleft lip, cleft palate, sparse hair, reduced sweating and teeth abnormalities. Progressive loss of scalp hair usually results in baldness by adulthood.
• Ectodermal dysplasia, anhidrotic with T-cell immunodeficiency, autosomal dominant: An inherited disorder characterized by dry, rough skin, sparse scalp hair, cone-shaped teeth and an immune system disorder.
• Ectodermal dysplasia, hypohidrotic, autosomal dominant: A very rare inherited disorder that affects the development of skin, hair, nails, teeth and sweat glands during the fetal stage.
• Ectodermal dysplasia, hypohidrotic, autosomal recessive: A rare genetic multisystem disorder characterized by hair, teeth, nail and skin abnormalities and absence of certain sweat glands.
• Ectodermal dysplasia, hypohidrotic, with immune deficiency: A rare genetic disorder characterized inability to sweat, immune system problems and hair and teeth abnormalities.
• Ectodermal dysplasia/ skin fragility syndrome: An extremely rare syndrome characterized by fragile skin which blisters and peels, abnormal nails and thickened skin on palms and soles. Skin blistering and peeling starts at birth.
• Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/Palate Syndrome, Type 1: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 1 is caused by a defect on chromosome 7q11. The severity and type of symptoms and deformities is highly variable.
• Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/Palate Syndrome, Type 3: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 3 is caused by a defect on chromosome 3q27. The severity and type of symptoms and deformities is highly variable.
• Ectrodactyly ectrodermal dysplasia: A rare genetic disorder characterized by missing digits and hair, teeth and nail abnormalities. The severity of the hand and foot malformations is variable.
• Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate: A rare inherited condition characterized by abnormalities of the fingers, toes, hair, glands, eyes anr urinary tract.
• Edinburgh malformation syndrome: A rare syndrome characterized mental and physical retardation, infant death and various other abnormalities.
• 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.
• Emery-Nelson syndrome: A rare condition characterized by a flat face and hand and foot 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.
• Epidermolysis bullosa simplex, Cockayne-Touraine type: A form of skin disease where fragile skin blisters if it suffers some sort of physical trauma. The blisters do not cause scarring and are exacerbated by warm weather.
• Epidermolysis bullosa, lethal acantholytic: A very rare inherited disorder characterized by extremely fragile skin and mucous membranes which blisters and peels. The majority of the skin blisters and peels within a week of birth. Severe fluid loss and death follows soon after.
• Epilepsy - microcephaly - skeletal dysplasia: A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities.
• Ermine phenotype: A very rare syndrome characterized by pigmentation abnormalities as well as deafness.
• Erosive pustular dermatosis of the scalp: A form of scalp inflammation that is not contagious. It is a chronic disorder which can cause hair loss due to hair follicle damage if untreated.
• Euhidrotic ectodermal dysplasia: A rare syndrome characterized mainly by tooth, hair and facial abnormalities.
• Excess hair growth: A condition which is characterized by an abnormal excessive amount of hair growth
• 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.
• Face symptoms: Symptoms affecting the face
• Facial hair growth: The growth of hair on the face
• Faciodigitogenital syndrome, recessive form: A rare syndrome characterized by facial, digital and genital abnormalities.
• Familial hypopituitarism: Impaired pituitary gland hormone-producing activity that tends to run in families. The failure of the pituitary gland in turn affects other hormone-producing glands which rely on the hormones from the pituitary gland for their activity. Symptoms are determined by the degree and type of hormone deficiency involved.
• Familial hypothyroidism: Impaired thyroid activity that tends to run in families.
• Familial renal cell carcinoma: A genetic form of kidney cancer that develops in the lining of the tubules in the kidney and tends to run in families.
• Feminisation: Female-like physical changes in males
• Fetal Hydantoin Syndrome: A rare disorder caused by fetal exposure to phenytoin (anticonvulsant drug) and resulting in various abnormalities.
• Fetal minoxidil syndrome: Fetal exposure to minoxidil which can pass from the mother to the fetus through the placenta. Minoxidil is a blood vessel dilator mainly used to treat high blood pressure but has other uses as well. Increased body hair is the main consistent effect of exposure to the drug. The amount of hair usually returns to normal within the first year.
• Fibromatosis gingival - hypertrichosis: A rare disorder characterized by excessive growth of body hair and enlarged gums.
• Fine hair: also called lanugo is the fine hair which grows in an attempt to insulate the skin due to lack of fat
• Fischer Syndrome: A rare condition characterized by unusual facial appearance, thickened skin on palms and soles, physical and mental delay and various other anomalies.
• Fitzsimmons-McLachlan-Gilbert syndrome: A very rare syndrome characterized mainly by mental retardation paraplegia and thickened coarse skin on palms and soles.
• Focal alopecia congenital - megalencephaly: A very rare syndrome characterized mainly by patchy hair loss which has no associated inflammation and scarring of the scalp. Megalencephaly (large, heavy brain) is also present.
• Focal dermal hypoplasia: A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk ant extremities.
• Folliculitis: An inflammatory reaction which occurs in the follicles
• Forbes-Albright syndrome: A rare condition where a hormone secreting pituitary or hypothalamic tumor causes galactorrhea and amenorrhea.
• Fowler-Christmas-Chapple syndrome: A rare syndrome characterized by the association of polycystic ovaries with the abnormal functioning of the urinary valve.
• Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
• Freire-Maia odontotrichomelic syndrome: A rare syndrome characterized by tooth, hair and limb abnormalities.
• Freire-Maia syndrome: An extremely rare syndrome characterized by tooth, hair and limb abnormalities. The abnormalities can be quite severe in some cases. The parents may have been related in the reported cases.
• Frontonasal dysplasia - Klippel Feil syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck (Klippel Feil syndrome) as well as larynx and voice box abnormalities.
• Fryns macrocephaly: A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance.
• 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.
• GAPO syndrome: A rare condition characterized by retarded growth, alopecia, otpic atrophy and failure of teeth to erupt.
• GM1 gangliosidosis: 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 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
• Gamborg nielsen syndrome: A rare genetic disorder characterized by hair, tooth and nail disorders.
• Gangliosidosis generalized GM1, type 1: 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 1 is a severe infantile form of the disorder and involves a greater degree of accumulation than type II or III.
• Garret-Tripp syndrome: A rare syndrome characterized mainly by extra digits, a lack of hair and scaly skin on the scalp, face and neck.
• 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.
• Generalized pustular psoriasis: This is a rare form of psoriasis is also known as von Zumbusch psoriasis. It can be life-threatening especially in the elderly. It is characterized by the development of pustules in the flexural areas - the backs of the knees, the insides of the elbows, the armpits and the groin. These pustules continue to spread and soon they join to form lakes of pus. The pustules rupture easily and can become infected. This condition can be fatal if the patient gets dehydrated, or the infection spreads to the bloodstream. Generalized pustular psoriasis is often triggered by stopping topical or oral steroids.
• Giant axonal neuropathy: A rare genetic disorder characterized by incoordination, vision problems and dementia caused by abnormalities of a nerve cell component.
• Glomerulonephritis - sparse hair - telangiectases: A rare syndrome characterized by sparse hair, kidney disease and enlarged skin blood vessels (telangiectasia).
• Glory lily poisoning: The glory lily is a type of vine which bears unusual yellow and red flowers. It is often used as an indoor and outdoor ornamental plant. The plant contains various chemicals that can cause serious symptoms if eaten. The roots are the most toxic part of the plant. The plant is considered very toxic and serious cases can result in death.
• Glucocorticoid resistance: A rare condition where all or parts of the body are unable to respond to glucocorticoids. Symptoms depend on the level or resistance.
• Gonadal dysgenesis XY type associated anomalies: A very rare syndrome characterized mainly by
• Graft versus host disease - chronic: A condition that occurs as a complication of bone marrow transfusion or leukocyte transfusion. The introduced transfusion material produces immune cells against the host's body. The chronic form of the condition usually results in symptoms 3 months or more after the transfusion.
• Granulomatous hypophysitis: A rare disorder caused by the inflammation of the pituitary gland. It can occur as a result of other infections such as tuberculosis and sarcoidosis.
• Graves disease: A condition which is an autoimmune disease that affects the thyroid resulting hyperthyroidism
• Graying: Gray coloring of the hair
• Greasy hair:
• 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.
• Gynandroblastoma: A type of ovarian tumor that causes feminizing and masculinizing effects of estrogen and androgen.
• HAIR-AN Syndrome: A very rare syndrome that affects females only and is characterized mainly by insulin resistance, dark velvety patches of skin and increased male hormone production in females.
• Hair conditions: Any disorder the affects the hair
• Hair defect photosensitivity mental retardation: A very rare syndrome characterized mainly by mental retardation, sensitivity to light and sparse, fragile hair.
• Hair defect with photosensitivity and mental retardation: A very rare syndrome characterized mainly by mental retardation, sensitivity to light and sparse, fragile hair
• Hair excess: An excess of body hair
• Hair loss: Loss or thinning of head or body hair
• Hair symptoms: Symptoms affecting the hair
• Hair thinning: The thinning of ones hair
• Hairiness: Increasing or heavy head or body hair
• Hairy Tongue: Abnormal sensation where the tongue feels hairy or furry.
• Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
• Hanhart syndrome type IV: A rare disorder where a genetic error of amino acid metabolism results in thickened skin on palms and soles, skin lumps, mental retardation and finger, toe, eye, hair and teeth abnormalities.
• Harlequin type ichthyosis: A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits.
• Hartnup Disease: A disorder of amino acid transport resulting in light sensitive dermatitis, ataxia, migraines and personality changes.
• Hashimoto's thyroiditis: A progressive disease of the thyroid which leads to degeneration and hypothyroidism
• Hay-Wells Syndrome: A rare genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate.
• Hay-Wells syndrome, recessive type: A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lower jaws.
• Head symptoms: Symptoms affecting the head or brain
• Heller-Nelson syndrome: A variant of Klinefelter syndrome (extra X chromosome in most cells) involving a range of abnormalities.
• Hemochromatosis type 3: A rare genetic disorder where too much iron is absorbed from food and it is stored in various parts of the body which can cause damage. Type 3 has an onset that is between type 1 and type 2 and is inherited recessively.
• Herbal Agent overdose - Autumn Crocus: Autumn crocus can be used as a herbal agent to treat gout and rheumatoid conditions. The herbal agent contains chemicals such as colchicine and the ingestion of excessive amounts of this can result in symptoms. Severe overdose can result in death and chronic ingestion can also cause harmful effects.
• Hidrotic ectodermal dysplasia, type Christianson-Fourie: A very rare syndrome characterized mainly by hair and nail abnormalities.
• Hirsutism: A condition which is characterized by excessive body and facial hair
• Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
• Homocystinuria syndrome: A rare genetic connective tissue disorder caused by an enzyme deficiency and characterized by dislocation of eye lens, malar flush and osteoporosis.
• Homologous wasting disease: A term used to describe the disease state resulting from a graft versus host reaction. Graft versus host reaction occurs when the immune system of a transplant patient attacks the transplanted tissue but in homologous wasting disease the immune cells in the transplanted tissue actually attacks the host tissues. The condition occurs most often after a bone marrow transplant.
• Hooft disease: A rare disorder characterized by mental and physical retardation, red rash and low blood lipid level.
• 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.
• 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.
• Hyperandrogenism: Excessive levels of androgen (male sex hormones) that can occur in males and females.
• Hyperostosis frontalis interna: A disorder where the front bone of the skull becomes thicker than normal.
• Hyperthyroidism: The excessive activity of the thyroid gland
• Hypertrichosis: Hypertrichosis is an overgrowth of hair not localized to the androgen-dependent areas of the skin
• Hypertrichosis brachydactyly obesity and mental retardation: A very rare disorder characterized mainly by excessive hair growth, short digits, obesity and mental retardation
• Hypertrichosis lanuginosa, acquired: Excessive hair growth associated with certain cancers such as lymphoma or cancers involving the digestive system, bronchi, uterus, ovary or urinary tract. Metabolic disorders, certain drugs or anorexia nervosa may also cause the excessive hair growth. The excessive hair growth can occur on the face, neck, limbs and trunk. The hair growth may be patchy or cover most of the body and the hair is usually fine and pale.
• Hypertrichosis, congenital generalized: A very rare congenital disorder characterized by excessive growth of hair. Males tend to be more affected than females.
• Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features: A very rare disorder characterized by thickened skin, mental retardation, increased body hair and a characteristic face.
• Hypertrichotic osteochondrodysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
• Hypogonadotropic hypogonadism - syndactyly: A very rare syndrome characterized mainly by webbed toes and reduced gonad function.
• Hypogonadotropic hypogonadism alopecia: A very rare syndrome characterized by partial alopecia and lack of secondary sex hormone production.
• Hypohidrotic Ectodermal Dysplasia: An inherited disorder involving the developmental abnormalities during the fetal stage that can affect the skin, hair, nails, teeth and sweat glands. This form of ectodermal dysplasia is characterized by a reduced ability to sweat due to a lack of sweat glands or dysfunction of present sweat glands.
• 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 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.
• Hypopigmentation/Deafness of Tietz: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.
• Hypopigmented lesions in children:
• Hypopituitarism: A condition characterized by diminished hormonal section by the pituitary gland
• Hypothyroidism: The decreased activity of the thyroid gland
• Hypothyroidism - cleft palate: A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning.
• Hypothyroidism - dermoid cyst - cleft palate: A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities.
• Hypotrichosis - ichthyosis, congenital: A rare, recessively inherited disorder characterized by dry, scaly skin and sparse hair.
• Hypotrichosis - lymphoedema - telangiectasia: A rare syndrome characterized mainly by sparse hair, lymphedema and telangiectasia.
• Hypotrichosis simplex: Abnormally sparse hair caused by a genetic anomaly.
• 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.
• Ichthyosiform Erythroderma, Corneal Involvement and Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
• Ichthyosiform erythroderma, nonbullous congenital: A rare inherited skin disorder characterized by redness, scaling and ultimately thickening of the skin that occurs from birth. The severity of the condition is variable.
• Ichthyosis and male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
• Ichthyosis congenita, Harlequin fetus type: A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits.
• Ichthyosis congenita, harlequin type: A very rare genetic skin disorder where a newborn is covered with large plates of thick skin that cracks and splits.
• Ichthyosis male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
• Ichthyosis with hypotrichosis, autosomal recessive: A rare, recessively inherited disorder characterized by dry, scaly skin and sparse hair.
• Ichthyosis, Keratosis Follicularis Spinulosa Decalvans: A rare inherited skin disorder where the skin around hair follicles becomes stiffened and the resulting scarring causes hair loss.
• Immunodeficiency with short limb dwarfism: A very rare condition where short-limbed dwarfism is associated with immunodeficiency.
• Impossible syndrome: A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth.
• 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.
• Increased facial hair: Increased growth of hair on the face
• Increased hair growth: Increased growth of hair
• Insensitivity to pain with anhidrosis: A rare disorder primarily involving insensitivity to pain with a lack of sweating.
• Insulin resistance, short fifth metacarpals: A rare syndrome characterized by short fifth fingers and fifth hand bones as well as insulin resistance.
• Insulin-resistance syndrome, type A: A syndrome characterized by insulin resistance resulting in distinctive skin lesions called acanthosis nigricans. It is the least severe form of insulin resistance.
• Intermediate cystinosis: Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The intermediate form of cystinosis starts later than the nephropathic form but the symptoms are the same.
• Iris coloboma, macrocephaly, agenesis of the corpus callosum, brachydactyly and mental retardation: A rare syndrome characterized mainly by a small head, brain anomaly, short digits, mental retardation and an eye defect.
• Isotretinoin - Teratogenic Agent: There is evidence to indicate that exposure to Isotretinoin (an acne treatment drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Jadassohn-Lewandowsky syndrome: A rare, inherited disorder characterized by thickening of nails, white patches on mouth and anus(leukoplakia) and thickened hard skin on soles and palms.
• Jequier-Kozlowski-skeletal dysplasia: A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies.
• Jorgenson syndrome: A rare inherited syndrome characterized by hair, teeth and skin abnormalities. The hair may be normal at birth but becomes sparse by the second decade.
• Judge-Misch-Wright syndrome: A very rare syndrome characterized mainly by thickened skin on palms and soles as well as around the mouth.
• Jugular lymphatic obstruction sequence: A rare disorder caused by obstruction of the jugular lymphatic system due to problems during the fetal stage of development.
• 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.
• Kaler-Garrity-Stern syndrome: A very rare syndrome characterized mainly by osteopenia, mental retardation and sparse hair.
• Katsantoni-Papadakou-Lagoyanni syndrome: A very rare syndrome characterized mainly by mental retardation and hair abnormalities.
• Keratitis Ichthyosis Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
• Keratoderma palmoplantaris transgrediens et progrediens: A rare syndrome characterized mainly by coarse hair and superficial horny growths on the palms and soles. Short fingers and thin nails have also been observed.
• Keratosis follicularis - dwarfism - cerebral atrophy: A very rare syndrome characterized mainly by dwarfism, brain degeneration and a hair follicle disorder.
• Keratosis follicularis spinulosa decalvans: A rare inherited skin disorder affecting mostly males and characterized by hardening of skin around hair follicles which leads to scarring and loss of hair. The skin on the face, neck, forearms and other areas can also be affected.
• Kidney symptoms: Symptoms affecting one or both kidneys.
• Kinky hair due to secondary causes: A hair condition involving the progressive kinking of hair that is the result of secondary processes i.e. other than genetics. It may affect all of the hair or only some patches of hair. It may be the result of chemical processing which can damage localized areas of scalp or systemic steroid use in some cases. Other forms of scalp trauma may also cause the hair to kink.
• Klinefelter syndrome: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division. Klinefelter syndrome variants is a more severe form of the condition as it involves more than one extra X or X and Y chromosome in each cell.
• Klippel Feil Syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
• Kotzot-Richter syndrome: A rare congenital disorder characterized by lack of skin and eye pigmentation, problems with the immune system, blood disorders and other anomalies.
• Lactic Acidosis, Fatal Infantile: The excessive accumulation of lactic acid in the blood which leads to metabolic acidosis.
• Lactic acidosis congenital infantile: A rare congenital condition where an infant has high levels of lactic acid in the blood causing metabolic acidosis.
• Lamellar ichthyosis: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes.
• Lamellar ichthyosis, autosomal dominant form: A very rare dominantly inherited disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes.
• Lamellar ichthyosis, type 1: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. Type 1 is distinguished by the location of the genetic defect - chromosome 14q11.2.
• Lamellar ichthyosis, type 2: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. Type 2 is distinguished by the location of the genetic defect - chromosome 2q34.
• Lamellar ichthyosis, type 3: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal large dark, plate-like scales. Type 3 is distinguished by the location of the genetic defect - chromosome 19p12-q12. This type also affects the ears and face to a greater degree than other types.
• Lamellar ichthyosis, type 5: A very rare disorder where an infant is born covered with a transparent membrane which sheds to reveal red scaly skin patches of varying sizes. Type 5 is distinguished by the location of the genetic defect - chromosome 17p13.2-p13.1.
• Lanzietri syndrome: A rare genetic disorder characterized by head and face abnormalities, dwarfism and absence of an lower leg bone (fibula).
• Laron Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Pituitary Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron Type Pituitary Dwarfism 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Laron-type Dwarfism Phenotypic Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
• Lawrence-Seip syndrome: Lawrence-Seip syndrome is a relatively uncommon condition involving generalized loss of skin fat that is acquired rather than congenital as in Berardinelli-Seip Syndrome. Patients can also develop diabetes mellitus and other problems. The loss of skin fat tends to occur during childhood or adolescence and is often triggered by infections such as measles and hepatitis. The diabetes tends to occur after fat loss begins. The limbs and face tend to be the most affected.
• Leprechaunism: A very rare genetic disorder characterized by insulin resistance which leads to growth delay and endocrine system abnormalities.
• Leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis: A very rare condition characterized by areas of increased and decreased skin pigmentation, mental retardation and sparse hair
• Liver symptoms: Symptoms affecting the liver
• Loose anagen syndrome: A rare condition where hair is easily plucked from the scalp even thought the hair itself is not fragile.
• Loss of eyelashes: The loss of a persons eyelashes
• Lowe oculocerebrorenal syndrome: A rare inherited metabolic disorder characterized primarily by eye and bone abnormalities, mental retardation and kidney problems.
• Lupus: Autoimmune disease with numerous effects on various organs and linings.
• MPS 3 C: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called acetyl-CoA:alpha-glucosamide N-acetyltransferase. Mucopolysaccharide levels build up and are then deposited in various tissues.
• MPS 3 D: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called N-acetylglucosamine-6-sulfate sulfatase. Mucopolysaccharide levels build up and are then deposited in various tissues.
• Macrocephaly, rhizomelia and conductive hearing loss: A rare syndrome characterized by a large head, short limbs and conductive hearing loss.
• Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance: A rare disorder characterized by osteoporosis, wrinkled skin, aged appearance and abnormal bone development.
• Madokoro-Ohdo-Sonoda syndrome: A rare disorder characterized by the absence of all four limbs, an unusual face and retarded development.
• Male-pattern baldness: The occurrence of baldness in the male in a characteristic pattern that increases with age
• Mandibuloacral dysplasia: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. There are two subtypes with type B involving loss of fat layers under the skin mainly in the extremities, face and trunk whereas type A involves mainly the extremities. The severity of the symptoms is variable.
• Mandibuloacral dysplasia with type B lipodystrophy: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities, face and trunk in type B. The severity of the symptoms is variable.
• Mannosidosis, alpha B lysosomal: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage.
• Marfanoid - mental retardation syndrome autosomal: A very rare syndrome characterized mainly by psychomotor retardation, a flat face and some symptoms of Marfan syndrome (long arms and legs, tall stature, reduced skin fat and poor muscle tone).
• Marie Unna congenital hypotrichosis: A rare inherited condition characterized by hair loss that starts during childhood. Women tend to have normal thickness hair that doesn't grow very long and loss of hair on other parts of the body such as eyelashes. Nail and teeth growth is also usually limited.
• Marinesco-Sjögren I: A rare condition characterized by cerebellar ataxia, speaking difficulty, mental retardation, short stature and tooth, hair and nail abnormalities.
• Marshall-Smith Syndrome: A rare genetic disorder characterized by accelerated growth and maturation, shallow orbits and broad middle bones of fingers.
• Masculinisation: Increased male physical appearance in females
• McCune-Albright Syndrome: A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material.
• McKusick type metaphyseal chondrodysplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
• Melanoma: Melanoma is the most dangerous type of skin cancer. It is the leading cause of death from skin disease. It involves cells called melanocytes, which produce a skin pigment called melanin. Melanin is responsible for skin and hair color.
• Mende syndrome: A rare condition characterized by congenital deafness, mutism, partial albinism and a mongoloid face as well as other anomalies.
• Menkes Disease: Genetic disease of copper deficiency.
• Menopause: End of female reproductive years
• Mental retardation - blepharophimosis - obesity - web neck: A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.
• Mental retardation - hip luxation - G6PD variant: A very rare syndrome characterized mainly by mental retardation, partially dislocated hips and an enzyme defect (G6PD).
• Mental retardation - macrocephaly - coarse facies - hypotonia: A very rare syndrome characterized mainly by mental retardation, large head, coarse face and reduced muscle tone.
• Mental retardation - myopathy - short stature - endocrine defect: A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
• Mental retardation sparse hair brachydactyly: A very rare syndrome characterized by mental retardation, sparse hair and short digits.
• Mental retardation, Mietens-Weber type: A very rare genetic condition characterized by mental retardation, corneal opacity, nystagmus, elbow contractures and dwarfism.
• Mental retardation, X-linked, Brooks type: A rare syndrome characterized by mental retardation, unusual facial appearance and retarded growth.
• Mesomelia radial hypoplasia bifid thumb unusual facies: A rare syndrome characterized mainly by skeletal abnormalities, dwarfism and hair, nail, skin and teeth abnormalities.
• Metabolic disorder: occurs when abnormal chemical reactions occur in the body
• Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
• Michelin tyre baby syndrome: A rare birth malformation characterized by excessive folded skin and characteristic skin lesions (lipomatous nevus).
• Micro syndrome: A rare, recessively inherited disorder characterized by intellectual impairment, small head, various eye problems, small genitals and abnormal brain development.
• Microcephalic osteodysplastic primordial dwarfism types 1 and 3: Microcephalic osteodysplastic primordial dwarfism types 1 and 3 were originally regarded as separate conditions but it was recently concluded that they were different expressions of the same condition. The main differences between the two forms is a difference in the radiological bone anomalies. The condition is characterized mainly by bone abnormalities, short stature and a small head.
• Microcephalic osteodysplastic primordial dwarfism, type 2: A very rare syndrome characterized mainly by
• Microcephaly - sparse hair - mental retardation - seizures: A very rare disorder characterized by an abnormally small head, sparse hair, mental retardation and seizures.
• Microcephaly immunodeficiency lymphoreticuloma: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
• Miescher syndrome (2): A rare inherited disorder characterized by pigmented velvety patches of skin, excess body hair, failure to thrive, retarded growth, diabetes and facial abnormalities.
• Mikaelian syndrome: A rare disorder characterized mainly by permanently flexed fingers, deafness and hair and teeth abnormalities.
• Mitochondrial encephalomyopathy - aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
• Mohr syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
• Moloney syndrome: A very rare syndrome characterized mainly by wasting of the choroids in the eye and sparse, fine hair. The choroid is a layer of blood vessels that lies between the retina and the sclera and delivers blood to the back of the eye.
• Monilethrix: A type of hair shaft abnormality involving constrictions at various points along the hair shaft which gives it a beaded appearance. The severity of the condition is variable.
• Mowat-Wilson syndrome: A very rare syndrome characterized mainly by mental retardation, a small head, characteristic facial appearance and various other abnormalities.
• Moynahan syndrome III: A rare syndrome characterized mainly by short stature, defective tooth enamel, clubfoot, skin problems and a variety of other anomalies. Blisters tend to occur during the warmer months of the year.
• Mucopolysaccharidosis 1: A rare inherited condition caused by the absence of certain lysosomal enzymes which are needed to break down mucopolysaccharides. Without these enzymes, mucopolysaccharides build up in various body organs and tissues which causes harmful effects. There are three subtypes of the condition: Hurler, Scheie and Hurler-Scheie with Hurler being the most severe and Scheie the mildest.
• Mucopolysaccharidosis type 2 Hunter syndrome- mild form: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down.
• Mucopolysaccharidosis type 3: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called N-acetyl-alpha-glucosaminidase (B) which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
• Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
• Mucopolysaccharidosis type I Scheie syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-iduronidase) needed to break it down.
• Muller-Barth-Menger syndrome: A rare disorder characterized by brain malformations, seizures, excessive hairiness and overlapping fingers.
• Multicentric osteolysis - nodulosis - arthropathy: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Multiple carboxylase deficiency, propionic acidemia: A disorder of fat metabolism where the body is unable to convert fat to energy due to the lack of a number of enzymes (carboxylases). Sufferers need to eat regularly to prevent symptoms. Symptoms are determined by the size and exact location of the tumor.
• Myotonic Dystrophy: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2.
• Myotonic dystrophy, type 2: An inherited disorder characterized by progressive muscle weakness and wasting as well as eye defects, heart abnormalities and other anomalies. The severity of the condition is greatly variable. There are two type of myotonic dystrophy with type 1 being more severe than type 2. Type 2 also tends to affect muscle closer to the trunk e.g. upper leg and shoulders.
• Myxedema: The most severe form of hypothyroidism characterized by swelling of extremities and face.
• N-acetyl-alpha-glucosaminidase sulfamidase deficiency: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called N-acetyl-alpha-glucosaminidase sulfamidase which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
• NISCH syndrome: A rare syndrome characterized by sparse scalp hair, scaly skin and inflammation and fibrosis of the bile ducts.
• Naguib syndrome: A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers.
• Narrow oral fissure - short stature - cone-shaped epiphyses: A very rare syndrome characterized mainly by narrow mouth opening, short stature and abnormal bone development.
• Nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia and severe mental retardation: A rare syndrome characterized sparse hair, underdeveloped nose and genitals, severe mental retardation and truncal obesity.
• Naxos disease: A very rare syndrome characterized mainly by heart disease and woolly hair.
• Nephropathic cystinosis: Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The nephropathic form of cystinosis usually starts during infancy and can result in severe complications if untreated.
• Netherton syndrome ichthyosis: A rare inherited skin disorder characterized by scaly skin which forms in a circular pattern.
• Neuroectodermal endocrine syndrome: A very rare syndrome characterized mainly by hormonal, hair, skin and brain abnormalities.
• Neuropathy, Hereditary Sensory, Type IV: A rare disorder characterized mainly by insensitivity to pain and inability to sweat.
• Nevi - atrial myxoma - myxoid neurofibromata - ephelides: A very rare syndrome characterized by spotty pigmentation on the skin and the development of multiple benign tumors (myxoma) that can occur just about anywhere in the body but mainly in the skin, breast and heart and endocrine glands such as the thyroid and pituitary gland. The symptoms are highly variable depending on the location, size and number of tumors. Endocrine gland tumors can affect hormone production and hence result in a range of symptoms.
• Nicolaides-Baraitser syndrome: A very rare syndrome characterized mainly by short stature, reduced hair, short fingers, epilepsy and abnormal bone development.
• Nijmegen Breakage Syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
• Nodulosis-arthropathy-osteolysis syndrome: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Noonan syndrome 3: A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies.
• Noonan-like syndrome: A very rare syndrome characterized mainly by heart problems, facial anomalies and a sunken chest.
• OFD syndrome type 8: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
• OFD syndrome type Figuera: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities and absence of all or part of the fibula.
• OFD syndrome type IX: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger and retinal abnormalities.
• OHSS: Excessive stimulation of the ovaries that usually occurs as a complication of in vitro fertilization but may also occur spontaneously. The degree of excessive ovarian stimulation may vary from mild to severe.
• Oculo tricho dysplasia: A very rare syndrome characterized mainly by eye, tooth and hair abnormalities
• Oculo-dento-digital dysplasia dominant: A rare disorder characterized by webbing of some fingers, small corneas, enamel abnormalities and slow-growing, dry hair.
• Oculo-osteo-cutaneous syndrome: A rare syndrome characterized mainly by eye, skeletal and skin abnormalities.
• Oculocerebral syndrome with hypopigmentation: A rare inherited disorder involving lack of pigmentation and eye and brain defects caused by central nervous system abnormalities.
• Oculocutaneous albinism: A group of inherited disorders characterized by varying degrees of lack of pigmentation in the skin, eyes and hair.
• Oculocutaneous albinism type 1: A rare inherited disorder characterized by complete lack of pigmentation in the skin, eyes and hair. Type 1A involves a complete absence of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color - type B involves only a partial absence of tyrosinase. It is caused by mutations in the TYR gene.
• Oculocutaneous albinism, minimal pigment type: A rare inherited condition characterized by very little pigmentation in the skin, eye and hair. It is believed to be a variant for of oculocutaneous albinism type 3.
• Oculocutaneous albinism, type 1A: A rare inherited disorder characterized by complete lack of pigmentation in the skin, eyes and hair. Type 1A involves a complete absence of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color. It is caused by mutations in the TYR gene.
• Oculocutaneous albinism, type 2: A rare inherited disorder characterized by reduced pigmentation in the skin, eyes and hair. Type 2 has normal levels of active tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color - the fairness is caused by a different genetic mutation (OCA2 gene).
• Oculocutaneous albinism, type 4: A rare inherited disorder characterized by reduced pigmentation in the skin, eyes and hair. Type 4 involves a normal levels of tyrosinase which is needed for the production of melanin which gives the skin, hair and eyes their color. However, albinism is caused by mutation of the MATP gene (membrane associated transporter protein).
• Oculodentodigital syndrome: A rare genetic disorder characterized by small eyes, underdeveloped tooth enamel and permanent flexion of one or more finger joints.
• Oculodentoosseous dysplasia dominant: A very rare dominantly inherited syndrome characterized mainly by eye, tooth and finger abnormalities.
• Oculodentoosseous dysplasia recessive: A very rare recessively inherited syndrome characterized mainly by eye, tooth and finger abnormalities. The eye abnormalities tend to be more severe than in the dominant form of the disorder.
• Odonto onycho dysplasia with alopecia: A very rare syndrome characterized mainly by tooth, nail and hair abnormalities.
• Odontoonychodermal dysplasia: A very rare syndrome characterized mainly by tooth, nail and skin abnormalities.
• Oligodontia and polycystic ovarian syndrome: A rare syndrome characterized by the association of missing teeth and polycystic ovarian syndrome.
• Onycho-tricho-dysplasia - neutropenia: A very rare syndrome characterized mainly by hair and nail abnormalities, neutropenia and psychomotor retardation.
• Onychotrichodysplasia and neutropenia: A very rare syndrome characterized mainly by nail, hair and blood abnormalities.
• Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome: A very rare syndrome characterized mainly by hair and nail abnormalities, neutropenia and mental retardation.
• Oral facial digital syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
• Oral facial digital syndrome, type IV: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities, brain defects and short stature.
• Orofaciodigital syndrome Thurston type: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
• Orofaciodigital syndrome type 10: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities and absence of all or part of the fibula.
• Orofaciodigital syndrome, type 3: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger, teeth and eye abnormalities.
• Orotic aciduria hereditary: A rare metabolic disorder where an inherited enzyme deficiency (lack of orotidylic pyrophosphorylase and orotidylic decarboxylase or a lack of orotidylic decarboxylase only) impairs the body's ability to break down orotic acid which then builds up in the body and causes damage.
• Ovarian cancer: A condition which is characterized by a malignancy that is located in the ovary
• PIBIDS syndrome: A rare inherited skin disorder characterized by photosensitivity (P), 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 IBIDS syndrome but involves photosensitivity.
• POEMS syndrome: A very rare disorder that has widespread effects on the body: P - polyneuropathy, O - organopathy, E - endocrinopathy, M - monoclonal gammopathy, S - skin changes.
• Pachydermoperiostosis: A rare genetic ectodermal disorder characterized by thick coarse skin and limb clubbing.
• Palant cleft palate syndrome: A rare genetic disorder characterized by a cleft palate, unusual facial features, mental retardation and limb abnormalities.
• Partington-Anderson syndrome: A very rare syndrome characterized mainly by retarded growth before and after birth, developmental delay, small head and distinctive facial appearance.
• Patchy hair loss: The occurrence of patchy hair loss
• Patterson pseudoleprechaunism syndrome: A very rare disorder characterized by excessive pigmentation, looks skin, unusual face, several mental retardation and bone abnormalities.
• Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.
• Petty-Laxova-Wiedemann syndrome: A very rare syndrome characterized mainly by premature aging involving the face, skin and hair as well as other anomalies.
• Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
• Picardi-Lassueur-Little syndrome: A very rare disorder characterized by patches of hair loss involving the scalp, armpits, eyebrows and genitals. The hair loss on the scalp is accompanied by scarring of the skin. Hair follicles become eruptive and spiny usually months to years after hair loss.
• Pierre Robin sequence with pectus excavatum and rib and scapular anomalies: A rare syndrome characterized mainly by a sunken chest, Pierre Robin sequence and rib and shoulder blade abnormalities.
• Pili annulati: A rare hair disorder where some or all of the hair shafts have alternating light and dark bands of color along the hair shaft.
• Pili torti: Twisted fragile hair shaft - usually a genetic condition.
• Pili torti - developmental delay - neurological abnormalities: A very rare syndrome characterized mainly by developmental delay, twisted hair shafts and neurological symptoms.
• Pili torti - onychodysplasia: A very rare syndrome characterized mainly by abnormal nails and fragile twisted hair shafts. The condition has been reported in only one family.
• Pilo dento ungular dysplasia - microcephaly: A very rare syndrome characterized mainly by hair, tooth and nail abnormalities as well as a small head.
• Pituitary cancer, childhood: Cancer (malignant) of the pituitary gland in children. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Pituitary tumors, adult: A benign or cancer tumor that develops in the tissue of the pituitary gland in adults. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
• Poikiloderma of Rothmund-Thomson: A rare disease which causes sufferers to have a senile-like appearance with skin, growth, hair and eye abnormalities.
• Polar bear poisoning: Polar bears are often used as a food source by the arctic inhabitants. Eating the liver and kidneys of the polar bear is believed to result in a Vitamin A overdose which can cause serious symptoms and even death in extreme cases. Eating more than 200 grams of Polar bear liver can result in human death however death is considered rare.
• Pollitt syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Polycystic ovaries urethral sphincter dysfunction: A rare syndrome characterized by the association of polycystic ovaries with the abnormal functioning of the urinary valve.
• Polycystic ovary syndrome: Polycystic ovary syndrome (PCOS) is an endocrine disorder that affects approximately 5% of all women.
• Polyendocrine deficiency syndrome type 1: Multi-endocrine syndrome commonly affecting children
• Porphyria Cutanea Tarda: A rare metabolic condition involving a deficiency of the enzyme uroporphyrinogen decarboxylase. This results in a buildup of porphyrins in the skin which makes it sensitive to light. Most symptoms tend to primarily affected the areas of skin most exposed to sun e.g. back of hands and arms.
• Porphyria Cutanea Tarda - familial: A rare metabolic condition involving a deficiency of the enzyme uroporphyrinogen decarboxylase throughout the body - type I involves a deficiency of the enzyme only in the liver. This results in a buildup of porphyrins in the skin which makes it sensitive to light. Most symptoms tend to primarily affected the areas of skin most exposed to sun e.g. back of hands and arms.
• Porphyria Cutanea Tarda - sporadic: A rare metabolic condition involving a deficiency of the enzyme uroporphyrinogen decarboxylase in the liver - type II involves a deficiency of the enzyme throughout the whole body. This results in a buildup of porphyrins in the skin which makes it sensitive to light. Most symptoms tend to primarily affected the areas of skin most exposed to sun e.g. back of hands and arms.
• Porphyria, congenital erythropoietic: An extremely rare inherited metabolic disorder involving a deficiency of the enzyme uroporphyrinogen III cosynthase which results in increased deposits of porphyrin in the bone marrow, blood, urine, feces and sometimes teeth and bones.
• Primerose syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Progeria: A rare fatal genetic disorder characterized by extremely premature aging.
• Progeroid syndrome, neonatal: A rare congenital condition characterized by poor growth, aged facial appearance, and mental retardation. Death occurs usually by 6 years of age.
• Progressive black carbon hyperpigmentation of infancy: A rare condition characterized by progressive increase in pigmentation of mucosal lining and skin.
• Progressive kinking of the hair, acquired: A very rare disorder where patches of hair become progressively frizzy and leads to loss of hair. The areas affected are those that correspond to male-pattern balding.
• Proud-Levine-Carpenter syndrome: A very rare syndrome characterized mainly by abnormal brain development, a small head and genital abnormalities.
• Pubic hair loss: Loss or thinning of hair in the pubic region
• Quinquaud's decalvans folliculitis: A form of hair loss involving the gradual destruction and scarring of hair follicles which causes hair loss which spreads outwards from a central point.
• Rabson-Mendenhall syndrome: A very rare genetic disorder involving severe insulin resistance which is where the body fails to be able to use insulin which is needed to control blood sugar levels.
• Radiation sickness: Illness from radiation exposure or cancer radiotherapy.
• Rajab-Spranger syndrome: A rare syndrome characterized mainly by a skin fat disorder, mental retardation and deafnes.
• Ramon Syndrome: A rare genetic condition characterized by cherubism, enlarged gums, epilepsy, mental deficiency and excessive body hair (hypertrichosis).
• Rapp-Hodgkin syndrome: A rare genetic multi-system disorder characterized by skin, teeth, hair and/or nail abnormalities, reduced ability to sweat and oral clefts.
• Red skin pigment anomaly of New Guinea: A rare skin anomaly observed in New Guinea natives where the skin is a reddish-brown color rather than the normal black.
• Renal Cell Carcinoma 2: A genetic form of kidney cancer.
• Renal Cell Carcinoma 3: A dominantly inherited form of kidney cancer which is linked to chromosome 5q.
• Renal Cell Carcinoma 4: A genetic form of kidney cancer.
• Resistance to thyroid stimulating hormone: A very rare disorder where the body is unable to respond to thyroid stimulating hormone even though it is present in sufficient quantities. The problem lies in defective thyroid stimulating hormone receptors.
• Retention of tears - ectrodactyly - ectodermal dysplasia - strange hair, skin and teeth: A rare syndrome characterized by a hand deformity and hair, skin and teeth abnormalities.
• Retinopathy - anaemia- CNS anomalies: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
• Rett-like syndrome: A very rare syndrome characterized mainly by
• Reversible alopecia:
• Revesz Debuse syndrome: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
• Revesz Syndrome: A very rare syndrome characterized mainly by disease of the eye retinas, anemia and central nervous system anomalies.
• Reynolds-Neri-Hermann syndrome: A very rare syndrome characterized mainly by heart defects, large head, developmental problems and facial and skin anomalies.
• Rhizomelic syndrome: A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood.
• Rieger anomaly - partial lipodystrophy: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay. Additional symptoms are also variably present.
• Ringed seal poisoning: The Ringed seal is often used as a food source by the arctic inhabitants. Eating the liver of the ringed seal can result in a Vitamin A overdose which can cause serious symptoms and even death in extreme cases.
• Roberts-SC Phocomelia: A rare genetic disorder characterized by limb deformities, midfacial defects and severe growth deficiency.
• Rodrigues blindness: A rare disorder characterized by severe eye malformations, short stature and hair and dental anomalies.
• Rombo syndrome: A very rare syndrome characterized mainly by
• Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
• Rubinstein-Taybi like syndrome: A condition characterized by numerous congenital abnormalities including small head, unusual facial features, short stature, broad thumb and big toe and mental retardation.
• SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
• SHORT Syndrome: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay.
• SIBIDS syndrome: A rare disorder characterized mainly by sulfur-deficient brittle hair as well as osteosclerosis.
• Sabinas brittle hair syndrome: A rare inherited disease characterized by brittle hair, mental retardation and fragile nails.
• Sabouraud syndrome: A rare inherited disorder involving thin, dry, brittle hair which has a tendency to break off easily.
• Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Salti-Salem syndrome: A very rare syndrome characterized by partial alopecia and lack of secondary sex hormone production.
• Sanderson-Fraser syndrome: A very rare syndrome characterized by overlapping fingers, abnormally placed urethral opening in males, protruding eyes and Robin association (small jaw and downward displaced tongue).
• Sanfilippo syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called heparin sulfatase which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
• Sanfilippo syndrome type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called N-acetyl-alpha-D-glucosaminidase. Mucopolysaccharide levels build up and are then deposited in various tissues.
• Scalp defects - postaxial polydactyly: A very rare syndrome characterized mainly by scalp defects and extra fingers and toes.
• Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
• Schlegelberger-Grote syndrome: A very rare syndrome characterized mainly by deafness, fingerlike thumbs and a blood disorder involving abnormally shaped blood platelets.
• Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
• Schäfer syndrome: A disorder characterized mainly by thickened skin on the palms and soles, white patches in mouth, mental and growth retardation and hair, nail and eye abnormalities.
• Scott syndrome: A very rare inherited syndrome characterized by head and digital abnormalities as well as mental retardation.
• Seckel syndrome: A rare condition characterized by fetal and postnatal growth retardation, mental retardation and characteristic facial features.
• Seckel-like syndrome, type Buebel: A rare syndrome characterized by dwarfism and other abnormalities characteristic of Seckel syndrome as well as hand and foot anomalies.
• Selenium - overuse: Excessive use of selenium can case various adverse symptoms.
• Selenium poisoning: Excessive exposure to selenium. Selenium is essential to the diet in small amounts but is toxic in large amounts. Poisoning can occur through inhalation or ingestion.
• Senter syndrome: A rare genetic ectodermal disorder characterized by ichthyosiform erythroderma and sensorineural deafness.
• Sequeiros-Sack syndrome: A very rare syndrome characterized mainly by nail abnormality, thin skin and sparse scalp hair.
• Serpentine fibula - polycystic kidney syndrome: A very rare syndrome characterized mainly by unusual s-shaped calf bone (fibula) as well as the development of numerous cysts in the kidneys.
• Sertoli-leydig cell tumors: A rare form of ovarian cancer where excessive male sex hormones are produced by the cancerous cells.
• Sheehan Syndrome: A rare condition that occurs in women who suffer a severe uterine hemorrhage during childbirth. The resulting blood loss may damage the pituitary gland and result in hypopituitarism.
• Short limbs subluxed knees cleft palate: A rare syndrome characterized mainly by short limbs, partially dislocated knees and a cleft palate.
• Siemens syndrome: A rare inherited skin disorder where the skin around hair follicles becomes stiffened and the resulting scarring causes hair loss.
• Sjogren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
• Sjögren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
• Skeletal dysplasia - orofacial anomalies: A very rare disorder characterized mainly by face, mouth and skeletal abnormalities.
• Sparse hair - ptosis - mental retardation: A very rare syndrome characterized mainly by sparse hair, droopy eyelids and mental retardation.
• Sparse hair - short stature - skin anomalies: A rare syndrome characterized mainly by sparse hair, short stature and skin anomalies.
• Spastic paraplegia - neuropathy - poikiloderma: A very rare syndrome characterized mainly by progressive stiffness and weakness of the legs, peripheral nerve degeneration and a skin disorder called poikiloderma. The eyelashes and eyebrows are usually gone by the age of three.
• Spastic paraplegia 23: A rare disorder characterized mainly by progressive stiffness and weakness of the leg muscles, premature graying, characteristic facial appearance and a skin pigmentation anomaly. Pigmentation anomalies usually start from the age of 6 months and leg problems may be noticed around the middle of the first decade.
• Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance.
• Spinocerebellar ataxia-dysmorphism syndrome: A rare genetic disorder characterized by characteristic facial anomalies, ataxia, delayed psychomotor development and various skeletal deformities.
• Spondyloepimetaphyseal dysplasia, hypotrichosis: An inherited bone growth disorder characterized by short stature, bone abnormalities and vision problems. An additional feature of this condition is the reduced amount of hair (hypotrichosis). The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue.
• Steroid abuse: Steroids are man-made chemicals that can be used to promote muscle development and increase male sexual characteristics. Steroids are a prescription drug usually used to treat disorders such as delayed puberty and body wasting in AIDS patients. Excessive or improper use of steroids usually occurs in athletes and can result in a range of unwanted symptoms.
• Sub clinical hypothyroidism: Sub clinical hypothyroidism, also referred to as mild hypothyroidism, is defined as normal serum free T4 levels with slightly high serum TSH concentration.
• Sugarman syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger, teeth and eye abnormalities.
• Syndactyly - cataract - mental retardation: A very rare syndrome characterized mainly by webbed fingers and toes, cataract and mental retardation.
• Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
• TDO type II: A rare genetic ectodermal disorder characterized by kinky hair, tooth enamel and bone abnormalities and differs from type I mainly by a small head and increased long bone density.
• Tang Hsi Ryu syndrome: A rare syndrome characterized by enlarged liver and spleen, increased pigmentation and abnormal peripheral nerve functioning.
• Taurodontia - absent teeth - sparse hair: A very rare syndrome characterized mainly by missing teeth, large tooth pulp chambers and sparse hair.
• Teebi-Shaltout syndrome: A very rare syndrome characterized by various facial and head abnormalities.
• Temporary hair loss: The temporary loss of ones hair
• Tethered Spinal Cord Syndrome: Spinal cord condition from abnormally stretched spinal cord.
• Tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities: A rare disorder involving tear duct abnormalities, missing arms and legs, retarded development and an unusual facial appearance.
• Tetramelic deficiencies - Ectodermal dysplasia - deformed ears - other abnormalities: An extremely rare syndrome characterized by tooth, hair and limb abnormalities. The abnormalities can be quite severe in some cases. The parents may have been related in the reported cases.
• Thickening of body hair:
• Thin hair: Normal hair fall is approximately 100-125 hair per day. True hair loss occurs when lost hairs are not regrown or when the daily hair shed exceeds 125 hairs
• Thinning hair: A condition which is characterized by a decease in the amount of hair
• Thrombocytopenia - Robin sequence: A very rare syndrome characterized by a variety of abnormalities such as short stature, unusual hair, reduced blood platelets, heart defects and tooth enamel anomaly.
• Thumb deformity, alopecia, pigmentation anomaly: A very rare syndrome characterized mainly by a deformed thumb, lack of hair and abnormal pigmentation.
• Thyroid agenesis: A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth.
• Thyroid disorders: Any disorder of the thyroid gland.
• Thyroid hormone plasma membrane transport defect: Thyroid problems caused by a defect in the transport of a thyroid hormone called T4 (thyroxine) within the body. The thyroid produces excessive hormones to try to compensate for that inability of the body to utilize the hormone.
• Tietz Albinism-Deafness Syndrome: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.
• Tietz syndrome: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.
• Tooth and nail syndrome: A genetic condition which affects the teeth and nails
• Total Hypotrichosis, Mari type: A rare inherited form of congenital alopecia (hair loss). It occurs primarily in the Mari population in a part of Russia.
• Toxic epidermal necrolysis: A skin condition causing widespread blisters to erupt over greater than 30% of the body.
• Tricho odonto onycho dermal syndrome: A very rare syndrome characterized by hair, tooth, nail and skin abnormalities.
• Tricho-dento-osseous syndrome: A rare genetic disorder characterized by kinky hair, tooth enamel and bone abnormalities. There are two different subtypes with type I being distinguished from type II by the presence of a small head and increased density in the long bones.
• Tricho-dento-osseous syndrome type I: A rare genetic ectodermal disorder characterized by kinky hair, tooth enamel and bone abnormalities.
• Tricho-odonto-onychial dysplasia: A very rare syndrome characterized by abnormal skull calcification, reduced scalp hair and nail and tooth enamel abnormalities.
• Tricho-onychic dysplasia: A rare genetic syndrome characterized by hair and nail abnormalities.
• Trichodental syndrome: A very rare syndrome characterized by short fine hair and dental abnormalities.
• Trichodermodysplasia - dental alterations: A rare syndrome characterized mainly by hair, skin and tooth abnormalities.
• Trichodysplasia xeroderma: A rare disorder involving the skin and hair.
• Trichomegaly - tapetoretinal degeneration - growth disturbance syndrome: A syndrome characterized by hair abnormalities and growth and eye problems.
• Trichorhinophalangeal syndrome type 1: A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses.
• Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
• Trichorrhexis nodosa syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy - sun sensitivity: A rare condition characterized by short brittle hair
• Trichothiodystrophy, type C: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy-neurocutaneous Syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichothiodystrophy-neurotrichocutaneous Syndrome of Pollitt: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
• Trichotillomania: Compulsive urge to pull out one's own hair.
• Tropical sprue: A rare digestive disease where the small intestine can't absorb nutrients properly.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Turner-mongolism polysyndrome: A rare syndrome characterized by webbed neck, elbow abnormalities and infantilism.
• Uncombable hair syndrome: A syndrome which is characterised by an abnormality in the structure of hair resulting in it being uncombable
• Universal Acquired Melanosis: A rare condition characterized by progressive increase in pigmentation of mucosal lining and skin.
• Unusual facies and autosomal dominant hypohidrotic ectodermal dysplasia: A rare syndrome characterized mainly by an unusual facial appearance and hair, nail, teeth and sweating abnormalities.
• Unusual facies and autosomal recessive hypohidrotic ectodermal dysplasia: A rare syndrome characterized mainly by hair, teeth and skin anomalies.
• Urocanase deficiency: A condition characterised by the deficiency of the urocanase enzyme
• Van Wyk-Grumbach syndrome: A condition involving premature menstruation and abnormal milk production in children who suffer from severe hypothyroidism.
• Varadi Papp syndrome: A syndrome characterised by deformities of the oral-facial-digital areas
• Variegate porphyria: A rare metabolic disorder characterized by a deficiency of a certain enzyme which results in a build-up in the body of porphyrins or their precursors. This form of hepatic porphyria causes the sufferer to have acute attacks as well as skin sensitivity.
• Virilism: Masculinization - enhancement of male secondary sexual characteristics in females such as increased hair growth, deeper voice and baldness.
• Virilizing ovarian tumor: An ovarian tumor made up of hormone secreting cells which results in excessive male hormone (androgen) production.
• Vitamin A overdose: Overdose of Vitamin A usually due to Vitamin A supplement overuse or poisoning.
• Vitiligo: A condition which is characterized by chronic pigmentary changes to the skin seen by white patches
• Waardenburg syndrome type 2: A hereditary, autosomal dominant disorder.
• Waardenburg syndrome types I: A rare genetic disorder characterized by lateral displacement of medial canthi, partial albinism and deafness.
• Walrus poisoning: The walrus is used as a food source in some parts of the world. Eating the liver of the walrus can result in a Vitamin A overdose which can cause serious symptoms and even death in extreme cases.
• Warburg Sjo Fledelius syndrome: A syndrome that is characterised by visual and neurological problems as well as microgenitalia
• Warburton Anyane Yeboa syndrome: A syndrome that is characterised by the occurrence of aneuploidy that can be manifested as monosomies or trisomies
• Wellesley-Carman-French Syndrome: A rare syndrome characterized by cataracts, growth problems and abnormal mouth tissue (frenulum).
• Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.
• Whelan syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities and hydronephrosis.
• Wiedemann Oldigs Oppermann syndrome: A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities.
• Woodhouse Sakati syndrome: A condition which consists of numerous symptoms such as diabetes, hypogonadism, deafness and mental retardation
• Woolly hair - hypotrichosis - everted lower lip - outstanding ears: A rare recessively inherited disorder characterized by woolly hair, reduced body hair, everted lower lip and ears that stick out.
• Woolly hair, congenital: A rare condition characterized by tightly curled hair that occurs from birth in non-black people.
• X chromosome, monosomy Xp22 pter: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual
• X chromosome, monosomy Xq28: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual
• Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency: A variant of the connective tissue disorder called Ehlers-Danlos. It is caused by a deficiency of galactosyltransferase I.
• Yunis Varon syndrome: A multisystem genetic disease that affects the skeletal system in particular
• Zanier-Roubicek syndrome: An inherited syndrome characterized by reduced sweating, hyperthermia, sparse hair, missing teeth and brittle nails.
• Zellweger-like syndrome, without peroxisomal anomalies: A rare syndrome characterized by unusual facial appearance, very low muscle tone, mental retardation and metabolic defects.
• Zunich-Kaye syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.

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