Upington disease

Infobox_Disease
Name = Upington disease


Caption =
DiseasesDB =
ICD10 = ICD10|M|91|8|m|90
ICD9 = ICD9|xxx
ICDO =
OMIM = 191520
MedlinePlus =
eMedicineSubj =
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Upington disease is an extremely rare [RareDiseases|5421] malformation disorder having only one published source claiming its existence on one family in three generations from South Africa.cite journal |author=Schweitzer G, Jones B, Timme A |title=Upington disease: a familial dyschondroplasia |journal=S. Afr. Med. J. |volume=45 |issue=36 |pages=994–1000 |year=1971 |pmid=5316541]

ymptoms

The disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata.

Inheritance

An autosomal dominant form of inheritance has been indicated for Upington disease. [ [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3408 ORPHANET - About rare diseases - About orphan drugs ] ]

This means the defective gene is located on an autosome, and one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.

Eponym

The name Upington refers to the district of Cape Province, South Africa from where the family originates.

References