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Familial clubfoot due to 17q23.1q23.2 microduplication
17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.
ORPHA:238578Classification level: Subtype of disorder
- Hereditary clubfoot due to 17q23.1-q23.2 microduplication
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant or Not applicable
- Age of onset: Infancy, Neonatal
- ICD-10: Q66.8
- OMIM: 613618
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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).