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