Char syndrome

Char syndrome

An autosomal dominant condition (OMIM:169100) characterised by patent ductus arteriosus, facial dysmorphism (long philtrum, downslanting palpebral fissures and thick lips) and hand malformations.

Molecular pathology
Caused by defects of TFAP2B.
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References in periodicals archive ?
Char syndrome is an autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and abnormalities of the fifth finger of the hand (1).
The family history was suggestive for the presence of Char syndrome.
Char syndrome has subsequently been reported by several investigators (4-7).
The triad of Char syndrome has been variable in all families reported to date.
Although rare, Char syndrome should be part of the differential diagnosis for patients with a family history of PDA, dysmorphic features, hand/foot anomalies and also polythelia.
Novel TFAP2B mutations that cause Char syndrome provide a genoty-pe-phenotype correlation.
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.