Upington disease

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Upington disease
Autosomal dominant - en.svg
Upington disease has an autosomal dominant pattern of inheritance.
Classification and external resources
Specialty rheumatology
ICD-10 M91.8
ICD-9-CM xxx
OMIM 191520
Orphanet 3408

Upington disease, also called Perthes-like hip disease, enchondromata, ecchondromata, and familial dyschondroplasia,[1][2] 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]

Characteristics[edit]

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[edit]

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.

Diagnosis[edit]

Management[edit]

Eponym[edit]

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

References[edit]

  1. ^ a b 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. ^ a b 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