Upington disease

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

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

Overview[edit | edit source]

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[edit | edit source]

↑ 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

Template:Disease-stub Template:Genetic-disorder-stub

Template:WikiDoc Sources

[1] Template:RareDiseases

[NCBI-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] ttp://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3408

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