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Familial clubfoot due to 17q23.1q23.2 microduplication

Orpha number ORPHA238578
Synonym(s) Hereditary clubfoot due to 17q23.1-q23.2 microduplication
Prevalence <1 / 1 000 000
Inheritance
  • Sporadic
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q66.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot. It has been described in three families. All cases with clubfoot were male and clubfoot was bilateral in all except one case. Clinically, the feet were short, with broad and overlapping toes. Mild nail hypoplasia was present in two affected individuals and mild short stature was common. The microduplication segregated with autosomal-dominant clubfoot in all three families but with incomplete penetrance. This microduplication was identified by array CGH (comparative genomic hybridization).

Expert reviewer(s)

  • Dr Nicole MORICHON-DELVALLEZ
Last update: October 2010

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