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

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 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. PMID 5316541. 
  4. ^ ORPHANET - About rare diseases - About orphan drugs
Appendicular
limb / dysmelia
Dislocation of hip / Hip dysplasia · Upington disease · Coxa valga · Coxa vara
Genu valgum · Genu varum · Genu recurvatum · Discoid meniscus · Congenital patellar dislocation · Congenital knee dislocation
Either / both
dactyly / digit:
reduction deficits / limb:
multiple joints:
Axial
other:

M: JNT

anat(h/c, u, t, l)/phys

noco(arth/defr/back/soft)/cong, sysi/epon, injr

proc, drug(M01C, M4)