Living with Ectrodactyly-polydactyly syndrome
A very rare condition with missing middle fingers or toes and an extra finger or toe on the pinky side.
Understanding Ectrodactyly-polydactyly syndrome
The central digits of the hands or feet are underdeveloped or missing, and there are one or more extra digits on the outer (pinky) side. Webbing of the skin between fingers, joined finger bones, and bent fingers have also been reported. GARD notes there have been no new descriptions in the medical literature since 1982. It begins during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cleft hand (ectrodactyly)
- Extra little finger (postaxial polydactyly)
- Joined fingers (syndactyly)
- Bent fingers (camptodactyly)
- Short fingers or toes
- Differences in hand bones
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 a person's genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: ectrodactyly polydactyly; ectrodactyly-polydactyly
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 Ectrodactyly-polydactyly syndrome.
Explore research for Ectrodactyly-polydactyly syndrome
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- Recruiting studies from ClinicalTrials.gov
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