Connective Tissue
Holt-Oram Syndrome
Also known as heart-hand syndrome, atriodigital dysplasia, TBX5 mutation
Holt-Oram syndrome is a highly penetrant autosomal dominant condition caused by pathogenic variants in TBX5, a T-box transcription factor essential for upper limb and cardiac development, resulting in the combination of preaxial upper limb
0
studies recruiting now
as of 7 Sept 2026
0
studies registered in total
as of 7 Sept 2026
0
countries with a recruiting site
as of 7 Sept 2026
None
recruiting study posted to date
among recruiting studies
Recruiting trials
No registered studies found for Holt-Oram Syndrome.
ClinicalTrials.gov has no study listed under this name as of 7 Sept 2026. That can change, and there are other routes worth knowing about.
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About Holt-Oram Syndrome
Holt-Oram syndrome is a highly penetrant autosomal dominant condition caused by pathogenic variants in TBX5, a T-box transcription factor essential for upper limb and cardiac development, resulting in the combination of preaxial upper limb anomalies and congenital heart defects. Upper limb malformations range from subtle abnormalities of the carpal or thumb bones detectable only radiographically to phocomelia, and are invariably present; cardiac defects, most commonly atrial septal defect and ventricular septal defect, occur in approximately 75% of individuals. Conduction system abnormalities, including atrioventricular block, occur even in the absence of structural heart defects and may present in adulthood.
Common clinical features
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Holt-Oram Syndrome. Not eligibility rules; those are set by each study.
- Hand and wrist radiographs are required to document upper limb skeletal anomalies even if clinically subtle — abnormal carpal ossification pattern is a consistent finding used to confirm diagnosis.
- Cardiac evaluation including ECG (for conduction abnormalities) and echocardiogram must be current; Holter monitoring may be requested if palpitations or presyncope are reported.
- TBX5 molecular confirmation is required for enrolment in most trials; de novo variants are common, so family history may be negative and should not preclude genetic testing.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).