Upington disease

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Upington disease
Other namesPerthes-like hip disease, Enchondromata, Ecchondromata, and Familial dyschondroplasia, [1] [2]
Autosomal dominant - en.svg
Upington disease has an autosomal dominant pattern of inheritance.
Specialty Rheumatology   OOjs UI icon edit-ltr-progressive.svg

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]

Contents

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. 1 2 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. 1 2 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.{{cite web}}: CS1 maint: numeric names: authors list (link)