Living with Brachydactyly-long thumb syndrome
A rare syndrome with short fingers, long thumbs, and an enlarged heart, noted in newborns and infants.
Understanding Brachydactyly-long thumb syndrome
Heart conduction (electrical signal) problems may also be present. Shoulders can be narrow with limited rotation, and the limbs, hands, and feet can be mildly short. No new reports have appeared since 1981.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on the summary, these are the main features:
- Short fingers (brachydactyly)
- Long thumbs
- Enlarged heart (cardiomegaly)
- Heart electrical signal problems
- Limited shoulder rotation
- Small hands and feet
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 rare disease patient organizations for support
- 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 genes cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: brachydactyly long thumb type; brachydactyly, long thumb type; long thumb brachydactyly syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Brachydactyly-long thumb syndrome.
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