Upper limb malformations with atrial septal defects and conduction disease.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, congenital
- Gene(s) involved
- SALL4, TBX5
- Alternative names & eponyms
- Heart–hand syndrome type 1
Etiology & mechanism
TBX5 haploinsufficiency disrupts cardiac and limb development.
Gene(s) involved (2)
Symptoms & signs (8)
In plain terms, someone with Holt–Oram syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Kabuki syndrome
atrial septal defect, ventricular septal defect
1 shared
Aase–Smith syndrome
ventricular septal defect
1 shared
Cardiofaciocutaneous syndrome
atrial septal defect
1 shared
Crush syndrome
arrhythmia
1 shared
Duane-radial ray syndrome
radial ray defects
1 shared
Ellis–van Creveld syndrome
atrial septal defect
1 shared
Fanconi anemia
radial ray defects
1 shared
Kearns–Sayre syndrome
heart block
1 shared
Okihiro syndrome
radial ray defects
1 shared
PRKAG2 syndrome
sinus bradycardia
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