Upington disease

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Upington disease
Classification and external resources
ICD-10 M91.8
ICD-9 xxx
OMIM 191520

Upington disease, also called Perthes-like hip disease, enchondromata and ecchondromata,[1] is an extremely rare[2] autosomal dominant[3] malformation disorder having only one published source claiming its existence on one family in three generations from South Africa.[3]

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 has an autosomal dominant pattern of inheritance.

Upington disease is inherited in an autosomal dominant manner.[3][4] 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[edit]

The name Upington refers to the district of Cape Province, South Africa from where the family originates.[1]

References[edit]

  1. ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 191520
  2. ^ Disease ID 5421 at NIH's Office of Rare Diseases
  3. ^ a b c Schweitzer G, Jones B, Timme A (1971). "Upington disease: a familial dyschondroplasia". S. Afr. Med. J. 45 (36): 994–1000. PMID 5316541. 
  4. ^ ORPHANET - About rare diseases - About orphan drugs