| hereditary benign intraepithelial dyskeratosis | An autosomal dominant condition consisting of white spongy lesions of the buccal mucosa, floor of the mouth, ventral lateral tongue, gingiva and palate. Transient gelatinous plaques form over the cornea, which may produce temporary blindness, hereditary benign intraepithelial dyskeratosis. Synonym: hereditary benign intraepithelial dyskeratosis. (05 Mar 2000) |
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| hereditary cerebellar ataxia | A disease of later childhood and early adult life, marked by ataxic gait, hesitating and explosive speech, nystagmus, and sometimes optic neuritis. It probably comprises several distinct conditions with diverse patterns of inheritance. Collective term for a number of hereditary disorders in which cerebellar signs are the most prominent finding. (05 Mar 2000) |
| hereditary chorea | A progressive disorder usually beginning in young to middle age, consisting of a triad of choreoathetosis, dementia, and autosomal dominant inheritance with complete penetrance. Bilateral marked wasting of the putamen and the head of the caudate nucleus is characteristic. Synonym: chronic progressive chorea, degenerative chorea, hereditary chorea, Huntington's disease. (05 Mar 2000) |
| hereditary coproporphyria | <haematology> A group of metabolic disorders that result from a disturbance in porphyrin metabolism, causing increased formation and excretion of porphyrin or its precursors. Acute intermittent porphyria is a rare inherited form that can result in abdominal pain, photosensitivity and neurological disturbances. The various forms can be differentiated measuring various blood prophyrins. Inheritance: autosomal dominant. (27 Sep 1997) |
| hereditary deafness and nephropathy | <nephrology, pathology> An inherited disorder involving damage to the kidneys, haematuria and hearing loss. In some individuals vision may also be affected. This genetic disease is uncommon. Symptoms include loss of hearing, abnormal colour to urine, swelling, cough and decline in vision. Inheritance: sex-linked autosomal dominant. Incidence: 1 in 50,000. Origin: Gr. Pathos = disease (27 Sep 1997) |
| hereditary deforming chondrodystrophy | A disturbance of enchondral bone growth in which multiple, generally benign osteochondromas of long bones appear during childhood, commonly with shortening of the radius and fibula; the ill-effects are usually mechanical but malignant change is rare; autosomal dominant inheritance. Synonym: diaphysial aclasis, hereditary deforming chondrodystrophy, multiple exostosis, osteochondromatosis. (05 Mar 2000) |
| hereditary exostosis | <radiology> (osteochondromatosis) Autosomal dominant, M more than F, multiple exostoses, snowflake calcification of mature cartilage cap, may leading to chondrosarcoma, short metacarpals (especially 4th and 5th) (12 Dec 1998) |
| hereditary fructose intolerance | A metabolic error due to deficiency of hepatic fructose 1,6-bisphosphate aldolase B (which also acts on fructose 1-phosphate); the second enzyme in the specific fructose pathway; vomiting and hypoglycaemia follow ingestion of fructose; prolonged fructose ingestion in young children results in failure to thrive and in jaundice, hepatomegaly, albuminuria, aminoaciduria, and sometimes cachexia and death; autosomal recessive inheritance in most families. (05 Mar 2000) |
| hereditary haemorrhagic telangiectasia | <gastroenterology> An inherited disease characterised by thin blood vessel walls in the nose, skin and gastrointestinal tract. This condition ins associated with a high risk of bleeding complications. Inheritance: autosomal dominant. (27 Sep 1997) |
| hereditary haemorrhagic thrombasthenia | <haematology> A form of congenital platelet functional defect that result in prolongation of the bleeding time. Characteristics include mucosal and post-operative bleeding that may be severe. (17 Dec 1997) |
| hereditary hyperthyroidism | A rare inherited (autosomal dominant) disorder with constitutive stimulation of the thyrocytes. (05 Mar 2000) |
| hereditary hypertrophic neuropathy | dejerine-Sottas disease |
| hereditary lymphedema | Permanent pitting oedema usually confined to the legs; two types, congenital (Milroy's disease ), or with onset at about the age of puberty (Meige's disease ); autosomal dominant inheritance. (05 Mar 2000) |
| hereditary methemoglobinaemia | Methemoglobinaemia due to formation of any one of a group of abnormal a chain or b chain haemoglobins collectively known as haemoglobin M. Slate-gray cyanosis occurs in early infancy, without pulmonary or cardiac disease, and is resistant to ascorbic acid or methylene blue therapy; autosomal dominant inheritance, methemoglobinaemia due to deficiency of cytochrome b5 reductaseor methemoglobin reductase, the enzyme responsible for reduction of intraerythrocyte methemoglobin; cyanosis is improved by ascorbic acid or methylene blue; autosomal recessive inheritance, one case of methemoglobinaemia has been reported that apparently is due to a deficiency of cytochrome b5. Synonym: hereditary methemoglobinaemia, hereditary methemoglobinaemic cyanosis, primary methemoglobinaemia. (05 Mar 2000) |
| hereditary methemoglobinaemic cyanosis | Methemoglobinaemia due to formation of any one of a group of abnormal a chain or b chain haemoglobins collectively known as haemoglobin M. Slate-gray cyanosis occurs in early infancy, without pulmonary or cardiac disease, and is resistant to ascorbic acid or methylene blue therapy; autosomal dominant inheritance, methemoglobinaemia due to deficiency of cytochrome b5 reductaseor methemoglobin reductase, the enzyme responsible for reduction of intraerythrocyte methemoglobin; cyanosis is improved by ascorbic acid or methylene blue; autosomal recessive inheritance, one case of methemoglobinaemia has been reported that apparently is due to a deficiency of cytochrome b5. Synonym: hereditary methemoglobinaemia, hereditary methemoglobinaemic cyanosis, primary methemoglobinaemia. (05 Mar 2000) |