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Czech dysplasia, metatarsal type

Orpha number ORPHA137678
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10
  • Q77.7
ICD-O -
OMIM
UMLS
  • C1836683
MeSH
  • C535766
MedDRA -

Summary

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. Stature and intelligence are normal. Radiographs reveal platyspondyly, irregular vertebral endplates, deformed femoral heads, pelvic dysplasia and narrowed intervertebral spaces. Transmission is autosomal dominant and mutations in the COL2A1 gene have been detected in several of the reported patients.

Expert reviewer(s)

  • Dr Martine LE MERRER

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