ICD-9 / Health Information

Upington disease

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From Wikipedia, the free encyclopedia

| ICD9 = | ICDO = | OMIM = 191520 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = Upington disease is an extremely rare disease having only one published source claiming its existence on one family in three generations from South Africa. 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.http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3408 The name Upington refers to the district of the Cape Province, South Africa where the family originates from.

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