Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Upington disease
Introduction
Overview
Overview
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
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
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]