Costello syndrome

Also known as: Faciocutaneo-skeletal syndrome

RASopathy with hypertrophic cardiomyopathy, atrial tachycardia and papillomata.

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

Etiology & mechanism

HRAS activating variants.

Gene(s) involved (1)

HRAS

Symptoms & signs (8)

atrial tachycardiacoarse faciesfeeding difficultyhypertrophic cardiomyopathyintellectual disabilityloose skinperioral papillomatashort stature

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