Overview
Polydactyly-myopia syndrome is an extremely rare genetic condition that combines two main features: polydactyly (having extra fingers or toes) and myopia (nearsightedness). The extra digits are typically present at birth and can appear on the hands, feet, or both. The myopia associated with this syndrome tends to be significant and may be noticed in early childhood when a child has difficulty seeing objects that are far away. Because this syndrome is so rare, it has been described in only a small number of families in the medical literature. The combination of skeletal and eye findings places it among the group of conditions classified as congenital malformation syndromes that primarily affect the limbs. Other features may sometimes be present, but the hallmark of this condition is the pairing of extra digits with notable nearsightedness. Treatment is generally focused on managing each symptom individually. Surgery can be performed to remove extra digits and improve hand or foot function, while corrective lenses or other vision treatments can address the myopia. Because so few cases have been reported, the full range of possible symptoms and the best approaches to care are still being studied. Genetic counseling is recommended for affected families to understand the chance of passing the condition to future children.
Also known as:
Key symptoms:
Extra fingers or toes at birthNearsightedness (difficulty seeing far-away objects)Abnormal shape or position of extra digitsNeed for glasses or contact lenses at a young agePossible difficulty with fine motor skills if extra digits affect hand function
Clinical phenotype terms (5)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Polydactyly-myopia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Polydactyly-myopia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Polydactyly-myopia syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the best age for surgery to remove the extra digits?,How severe is my child's myopia, and how often should their vision be checked?,Are there any risks of complications from high myopia that we should watch for?,Should we pursue genetic testing, and what would the results tell us?,Is there a chance this condition could be passed on to future children?,Will my child need occupational therapy after surgery?,Are there any other health issues we should screen for as part of this syndrome?
Common questions about Polydactyly-myopia syndrome
What is Polydactyly-myopia syndrome?
Polydactyly-myopia syndrome is an extremely rare genetic condition that combines two main features: polydactyly (having extra fingers or toes) and myopia (nearsightedness). The extra digits are typically present at birth and can appear on the hands, feet, or both. The myopia associated with this syndrome tends to be significant and may be noticed in early childhood when a child has difficulty seeing objects that are far away. Because this syndrome is so rare, it has been described in only a small number of families in the medical literature. The combination of skeletal and eye findings places
How is Polydactyly-myopia syndrome inherited?
Polydactyly-myopia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Polydactyly-myopia syndrome typically begin?
Typical onset of Polydactyly-myopia syndrome is neonatal. Age of onset can vary across affected individuals.