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Czech dysplasia, metatarsal type

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
  • Q77.7
  • C1836683
  • C535766
MedDRA -


Disease definition

Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.


So far, less than 20 patients have been reported, including multiple members of five families from the Czech Republic.

Clinical description

Stature and intelligence are normal. Radiographs reveal platyspondyly, irregular vertebral endplates, deformed femoral heads, pelvic dysplasia and narrowed intervertebral spaces.


Mutations in the COL2A1 gene have been detected in several of the reported patients.

Genetic counseling

Transmission is autosomal dominant.

Expert reviewer(s)

  • Dr Martine LE MERRER

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