Living with Holt-Oram syndrome
A genetic condition affecting the bones of the hands and arms and often the heart.
Understanding Holt-Oram syndrome
People have abnormally formed upper limb bones, always including at least one wrist bone. Some wrist changes show only on x-ray. Other changes can include a missing thumb, a thumb that looks like a finger, and forearm or shoulder bone differences. About 75 percent of people have heart problems, most often a hole between heart chambers. Some have heart rhythm problems. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wrist bone differences
- Absent or finger-like thumb
- Underdeveloped forearm bone (radius)
- Hole between upper heart chambers (ASD)
- Hole between lower heart chambers (VSD)
- Slow or irregular heart rhythm
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in TBX5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Kids with Heart National Association for Children's Heart Disorders
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TBX5 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: atriodigital dysplasia type 1; cardiac-limb syndrome; heart-hand syndrome type 1; heart-hand syndrome, type 1; holt oram syndrome; hos
Patient organizations
- Kids with Heart National Association for Children's Heart DisordersHolt-Oram syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Holt-Oram syndrome.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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