Upington disease
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[edit | edit source]
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.
Genetics[edit | edit source]
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.
Management[edit | edit source]
![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (August 2017) |
Eponym[edit | edit source]
The name Upington refers to the city in the Northern Cape Province, South Africa from where the family originates.[4]
References[edit | edit source]
- ↑ Disease ID 5421 at NIH's Office of Rare Diseases
- ↑ 2.0 2.1
- ↑ ORPHANET - About rare diseases - About orphan drugs
- ↑ Cite error: Invalid
<ref>tag; no text was provided for refs namedomim
External links[edit | edit source]
| Classification | |
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| External resources |
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Contributors: Prab R. Tumpati, MD
