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 | |
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Other names | Perthes-like hip disease, Enchondromata, Ecchondromata, and Familial dyschondroplasia,[1][2] |
Upington disease has an autosomal dominant pattern of inheritance. | |
Specialty | Rheumatology |
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]
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]
The name Upington refers to the city in the Northern Cape Province, South Africa, from where the family originates.[1]
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