Upington disease

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

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]

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.^{[citation needed]}

Genetics

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.^{[citation needed]}

Management

Eponym

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

References

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. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Upington disease". www.orpha.net.

External links