| Upington disease | |
| Classification and external resources | |
| ICD-10 | M91.8 |
|---|---|
| ICD-9 | xxx |
| OMIM | 191520 |
| eMedicine | / |
Upington disease is an extremely rare[1] malformation disorder having only one published source claiming its existence on one family in three generations from South Africa.[2]
Contents |
Symptoms
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.
Inheritance
An autosomal dominant form of inheritance has been indicated for Upington disease.[3]
This means the defective gene is located on an autosome, and one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
Eponym
The name Upington refers to the district of Cape Province, South Africa from where the family originates.[2]
References
- ^ Disease ID 5421 at NIH's Office of Rare Diseases
- ^ a b Schweitzer G, Jones B, Timme A (1971). "Upington disease: a familial dyschondroplasia". S. Afr. Med. J. 45 (36): 994–1000. PMID 5316541.
- ^ ORPHANET - About rare diseases - About orphan drugs
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