Upington disease
Medical condition
From Wikipedia, the free encyclopedia
Upington disease is an extremely rare[3] autosomal dominant malformation disorder. It has only one published source claiming its existence in three generations of one family from South Africa.[4]
| Upington disease | |
|---|---|
| Other names | Perthes-like hip disease, Enchondromata, Ecchondromata, and Familial dyschondroplasia,[1][2] |
| |
| Upington disease has an autosomal dominant pattern of inheritance. | |
| Specialty | Rheumatology  |
Presentation
The disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata.[citation needed]
Genetics
Upington disease is inherited in an autosomal dominant manner.[4][5] This means the defective gene is located on an autosome, and one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.[citation needed]
Eponym
The name Upington refers to the city in the Northern Cape Province, South Africa, from where the family originates.[1]