Living with Triphalangeal thumbs-brachyectrodactyly syndrome
A rare genetic condition with differences in the thumbs, fingers, and toes, including extra, short, or joined digits.
Understanding Triphalangeal thumbs-brachyectrodactyly syndrome
Features include thumbs with three bones, extra bones in other fingers, and extra fingers or toes. These come with a wide mix of split hand or foot, short digits, and joined digits. Nails may be very poorly formed or missing. It is noticed at birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but the summary describes these features:
- Thumbs with three bones (triphalangeal thumbs)
- Extra fingers or toes (polydactyly)
- Short fingers or toes (brachydactyly)
- Split hand or foot (ectrodactyly)
- Joined fingers or toes (syndactyly)
- Poorly formed or missing nails
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 and genetic 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)
- 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
GARD says changes in genes (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: carnevale hernandez del castillo syndrome; carnevale-hernández-del castillo syndrome; triphalangeal thumb and brachyectrodactyly syndrome; triphalangeal thumb with brachyectrodactyly syndrome; triphalangeal thumbs with brachyectrodactyly
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 Triphalangeal thumbs-brachyectrodactyly syndrome.
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