Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

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 Autosomal dominant
Not applicable
Age of onset Infancy
Neonatal
ICD-10
  • Q66.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

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

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.