Upington disease explained

Upington disease
Synonyms:	Perthes-like hip disease, Enchondromata, Ecchondromata, and Familial dyschondroplasia,^[1]

Upington disease is an extremely rare autosomal dominant malformation disorder. It has only one published source claiming its existence in three generations of one family from South Africa.^[2]

Presentation

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.

Genetics

Upington disease is inherited in an autosomal dominant manner.^{[2] [3]} 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.

Eponym

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

Notes and References

1. Web site: Upington disease Disease Living With Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov. 2016-03-01.
2. Schweitzer G, Jones B, Timme A . Upington disease: a familial dyschondroplasia . S. Afr. Med. J. . 45 . 36 . 994–1000 . 1971 . 5316541.
3. Web site: Orphanet: Upington disease. INSERM US14-- ALL RIGHTS. RESERVED. www.orpha.net.