| CDGG | corneal dystrophy Groenouw type, granular |
|---|---|
| NF | Neuro-Fibromatosis = Von Recklinghausen's Disease NF 1; Neuro-Fibroma... |
| PFKL | phosphofructokinase, liver type; 6-phosphofructo-2-kinase, liver type |
| PFKP | phosphofructokinase, platelet type; 6-phosphofructo-2-kinase, platelet type |
| ALD | Adreno-Leuko-Dystrophy |
| endothelial dystrophy of cornea | Spontaneous loss of corneal endothelium leading to oedema of the corneal stroma and epithelium. (05 Mar 2000) |
|---|---|
| epithelial dystrophy | Corneal dystrophy affecting primarily the epithelium and its basement membrane. See: juvenile epithelial corneal dystrophy. (05 Mar 2000) |
| twenty-nail dystrophy | Longitudinal ridging of all of the nails; seen in alopecia areata and lichen planus. (05 Mar 2000) |
| juvenile epithelial corneal dystrophy | Epithelial dystrophy characterised by progressive cysts and opacities of the corneal epithelium, with onset in infancy. Inheritance: autosomal dominant with incomplete penetrance. Synonym: Meesman dystrophy. (22 Sep 2002) |
| facioscapulohumeral muscular dystrophy | A relatively benign type of muscular dystrophy commencing in childhood and slowly progressive; characterised by wasting and weakness, sometimes asymmetrical, mainly of the muscles of the face, shoulder girdle, and arms; autosomal dominant inheritance. Synonym: facioscapulohumeral atrophy, Landouzy-Dejerine dystrophy. (05 Mar 2000) |
| Favre's dystrophy | Autosomal recessive bilateral peripheral and central retinoschisis with pigmentary degeneration of the retina, chorioretinal atrophy, vitreous degeneration, and night blindness. Synonym: Favre's dystrophy. (05 Mar 2000) |
| fingerprint dystrophy | A condition wherein fine parallel lines in a fingerprint configuration area are seen in the basal epithelial layer and basement membrane of the corneal epithelium. See: map-dot-fingerprint dystrophy. (05 Mar 2000) |
| fleck dystrophy of cornea | A bilateral occurrence of subtle spots in the corneal stroma; the spots vary in size and shape, and have sharp margins and clear centres; photophobia may occur; autosomal dominant inheritance. (05 Mar 2000) |
| Landouzy-Dejerine dystrophy | A relatively benign type of muscular dystrophy commencing in childhood and slowly progressive; characterised by wasting and weakness, sometimes asymmetrical, mainly of the muscles of the face, shoulder girdle, and arms; autosomal dominant inheritance. Synonym: facioscapulohumeral atrophy, Landouzy-Dejerine dystrophy. (05 Mar 2000) |
| lattice corneal dystrophy | A corneal dystrophy due to localised accumulation of amyloid in a reticular pattern; manifest at puberty and progressing slowly until eventually useful vision is lost; autosomal dominant inheritance. (05 Mar 2000) |
| fuchs' endothelial dystrophy | Disorder caused by loss of endothelium of the central cornea. It is characterised by hyaline endothelial outgrowths on descemet's membrane, epithelial blisters, reduced vision, and pain. (12 Dec 1998) |
| Fuchs' epithelial dystrophy | Epithelial oedema secondary to endothelial dystrophy of the cornea. (05 Mar 2000) |
| Leyden-Mobius muscular dystrophy | One of the less well-defined types of muscular dystrophy, probably heterogenous in nature. Onset usually in childhood or early adulthood and both sexes affected. Characterised by weakness and wasting, usually symmetrical, of the pelvic girdle muscles, the shoulder girdle muscles, or both, but not the facial muscles. Muscle pseudohypertrophy, heart involvement, and mental retardation are absent. Variable inheritance. Synonym: Leyden-Mobius muscular dystrophy, pelvofemoral muscular dystrophy, scapulohumeral muscular dystrophy. (05 Mar 2000) |
| limb-girdle muscular dystrophy | One of the less well-defined types of muscular dystrophy, probably heterogenous in nature. Onset usually in childhood or early adulthood and both sexes affected. Characterised by weakness and wasting, usually symmetrical, of the pelvic girdle muscles, the shoulder girdle muscles, or both, but not the facial muscles. Muscle pseudohypertrophy, heart involvement, and mental retardation are absent. Variable inheritance. Synonym: Leyden-Mobius muscular dystrophy, pelvofemoral muscular dystrophy, scapulohumeral muscular dystrophy. (05 Mar 2000) |
| acrocephalosyndactyly type 1 | <paediatrics> An inherited disease (autosomal dominant) or a spontaneously occurring disease characterised by a peaked head and unusual facial appearance, due to the premature closure of the cranial sutures. A skull X-ray can confirm the diagnosis and treatment is surgical. Inheritance: autosomal dominant. (27 Sep 1997) |