Living with Polydactyly-myopia syndrome
A rare inherited condition with an extra finger or toe and nearsightedness that worsens over time.
Understanding Polydactyly-myopia syndrome
It was first described in 1986 in 9 people across 4 generations of a family in Hungary. The extra digit is present at birth. Other features that were listed include hernias and undescended testes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Extra finger beside the little finger
- Nearsightedness (myopia) that worsens
- Groin hernias
- Undescended testes
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 cause this condition but doesn't name a gene. Family history suggests autosomal dominant inheritance, meaning one changed copy of the gene is enough.
Also known as: czeizel brooser syndrome; czeizel-brooser syndrome; polydactyly myopia syndrome; postaxial polydactyly with progressive myopia; postaxial polydactyly-progressive myopia 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 Polydactyly-myopia syndrome.
Explore research for Polydactyly-myopia syndrome
Explore actively recruiting Polydactyly-myopia syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- 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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