Char syndrome

Also known as: Patent ductus arteriosus with facial and hand anomalies

Dominant syndrome with patent ductus arteriosus, facial dysmorphism and fifth finger clinodactyly.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: TFAP2B

Etiology & mechanism

TFAP2B variants.

Gene(s) involved (1)

TFAP2B

Symptoms & signs (5)

clinodactyly of fifth fingersflat nasal bridgepatent ductus arteriosusptosisshort philtrum

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.