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Upington disease

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Upington disease

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]

Contents

  • Characteristics 1
  • Genetics 2
  • Eponym 3
  • References 4

Characteristics

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 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

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

References

  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.  
  4. ^ ORPHANET - About rare diseases - About orphan drugs
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