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
- ↑ Disease ID 5421 at NIH's Office of Rare Diseases
- ↑ 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
 | This disease article is a stub. You can help WikiDoc by expanding it. |
Navigation WikiDoc | WikiPatient | Popular pages | Recently Edited Pages | Recently Added
Pictures
There is no pharmaceutical or device industry support for this site and we need your viewer supported Donations | Editorial Board | Governance | Licensing | Disclaimers | Avoid Plagiarism | Policies
Table of Contents In Alphabetical Order | By Individual Diseases | Signs and Symptoms | Physical Examination | Lab Tests | Drugs
Editor Tools Become an Editor | Editors Help Menu | Create a Page | Edit a Page | Upload a Picture or File | Printable version | Permanent link | Maintain Pages | What Pages Link HereThere is no pharmaceutical or device industry support for this site and we need your viewer supported Donations | Editorial Board | Governance | Licensing | Disclaimers | Avoid Plagiarism | Policies
