Living with Ectrodactyly
A birth difference of the hands or feet with missing fingers or toes, a deep cleft in the center, and joined remaining digits.
Understanding Ectrodactyly
Severity varies widely. It can occur by itself or as part of a syndrome with other body differences. At least six forms of isolated SHFM have been described, each with a different genetic cause. It is present from the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing fingers or toes (oligodactyly)
- Deep cleft in the hand or foot
- Joined fingers (syndactyly)
- Hand with a single finger (monodactyly)
- Split foot
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 different types have different genetic causes, including the TP63 gene (SHFM4), the WNT10B gene (SHFM6), and changes on chromosomes 7, 10, 2, and the X chromosome. It can be autosomal dominant, autosomal recessive, or X-linked.
Also known as: cleft hand; fewer digits; lobster claw deformity; lobster claw hand; lobster-claw deformity; shfm
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.
Explore research for Ectrodactyly
Explore actively recruiting Ectrodactyly studies with HealthSpark.
Find actively recruiting studies for Ectrodactyly with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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