Rubinstein–Taybi syndrome

Also known as: RSTS

Broad thumbs and toes with intellectual disability and congenital heart disease.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: CREBBP, EP300

Etiology & mechanism

Loss of histone acetyltransferases CBP or EP300.

Gene(s) involved (2)

CREBBPEP300

Symptoms & signs (9)

beaked nosebroad great toesbroad thumbscongenital heart diseasefeeding problemsintellectual disabilitykeloidsmicrocephalyshort stature

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