Holt–Oram syndrome

Also known as: Heart–hand syndrome type 1

Upper limb malformations with atrial septal defects and conduction disease.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, congenital
Gene(s) involved: SALL4, TBX5

Etiology & mechanism

TBX5 haploinsufficiency disrupts cardiac and limb development.

Gene(s) involved (2)

SALL4TBX5

Symptoms & signs (8)

absent thumbsarrhythmiaatrial septal defectheart blockphocomeliaradial ray defectssinus bradycardiaventricular septal defect

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