Upington disease

Jump to: navigation, search

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

Upington disease
ICD-10 M91.8
ICD-9 xxx
OMIM 191520

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

  1. Disease ID 5421 at NIH's Office of Rare Diseases
  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.
  3. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3408



Linked-in.jpg