Upington disease

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Upington disease

ICD-10 | M91.8
ICD-9 | xxx
OMIM | 191520

## Overview

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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

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1. ↑ Template:RareDiseases
2. ↑ 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.CS1 maint: Multiple names: authors list (link)
3. ↑ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3408

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