Upington disease

Upington disease, is an extremely rare[3] autosomal dominant malformation disorder. It has only one published source claiming its existence in three generations of one family from South Africa.[4]

Upington disease
Other namesPerthes-like hip disease, Enchondromata, Ecchondromata, and Familial dyschondroplasia,[1][2]
Upington disease has an autosomal dominant pattern of inheritance.


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.


Upington disease is inherited in an autosomal dominant manner.[4][5] This means the defective gene is located on an autosome, and one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.



The name Upington refers to the city in the Northern Cape Province, South Africa from where the family originates.[1]


  1. Online Mendelian Inheritance in Man (OMIM) 191520
  2. "Upington disease | Disease | Living With | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2016-03-01.
  3. Disease ID 5421 at NIH's Office of Rare Diseases
  4. Schweitzer G, Jones B, Timme A (1971). "Upington disease: a familial dyschondroplasia". S. Afr. Med. J. 45 (36): 994–1000. PMID 5316541.
  5. ORPHANET - About rare diseases - About orphan drugs
External resources

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