Cantú syndrome

Also known as: Hypertrichotic osteochondrodysplasia

Hypertrichosis, cardiomegaly and osteochondrodysplasia.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: ABCC9, KCNJ8

Etiology & mechanism

Gain of function of KATP channel subunits.

Gene(s) involved (2)

ABCC9KCNJ8

Symptoms & signs (7)

cardiomegalycoarse facieshypertrichosislymphedemamacrosomiapatent ductus arteriosuspericardial effusion

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