Upington disease
| Upington disease | |
| ICD-10 | M91.8 |
|---|---|
| ICD-9 | xxx |
| OMIM | 191520 |
Upington disease is an extremely rare[1] disease having only one published source claiming its existence on one family in three generations from South Africa.[2] The disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. A autosomal dominant form of inheritance has been suggested.[3] The name Upington refers to the district of the Cape Province, South Africa where the family originates from.[2]
References
- ↑ Template:RareDiseases
- ↑ 2.0 2.1 Schweitzer G, Jones B, Timme A (1971). "Upington disease: a familial dyschondroplasia". S. Afr. Med. J. 45 (36): 994–1000. PMID 5316541.
- ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3408