Living with Aphalangy-syndactyly-microcephaly syndrome
An extremely rare syndrome present from birth with finger and toe differences, a smaller head, and mild intellectual disability.
Understanding Aphalangy-syndactyly-microcephaly syndrome
People have missing outer finger and toe bones and fused fingers or toes (syndactyly). There can also be an extra metatarsal (foot bone), a smaller head (microcephaly), and mild intellectual disability. It is seen during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head (microcephaly)
- Fused toes (syndactyly)
- Small or missing outer finger and toe bones
- Small or absent nails
- Short stature
- 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 changes in genes (also called variants) cause this syndrome. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: aphalangia, partial, with syndactyly and duplication of metatarsal type 4
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 Aphalangy-syndactyly-microcephaly syndrome.
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