Upington disease
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Upington disease is an extremely rare[1] autosomal dominant malformation disorder. It has only one published source claiming its existence in three generations of one family from South Africa.[2]
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.Script error: No such module "Unsubst".
Genetics
Upington disease is inherited in an autosomal dominant manner.[2][3] 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.Script error: No such module "Unsubst".
Management
Eponym
The name Upington refers to the city in the Northern Cape Province, South Africa, from where the family originates.[4]
References
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External links
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