Overview
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication is an extremely rare genetic condition caused by a small extra copy (duplication) of genetic material on the long arm of chromosome 2, specifically in the region known as 2q31.1. This condition primarily affects two parts of the body: the hands or feet and the eyes. Syndactyly refers to webbing or fusion of the fingers or toes, where two or more digits are joined together. Nystagmus refers to involuntary, repetitive eye movements that can affect vision and depth perception. Because this is a chromosomal microduplication syndrome, the extra genetic material can disrupt the normal function of several genes in the 2q31.1 region, including genes involved in limb development and eye function. The severity of symptoms can vary from person to person depending on the exact size and location of the duplicated segment. There is currently no cure for this condition. Treatment focuses on managing individual symptoms. Surgery may be considered to separate fused fingers or toes and improve hand or foot function. Eye specialists can help manage nystagmus with corrective lenses, prisms, or in some cases medication or surgery to reduce abnormal eye movements. Early intervention with developmental support services may also be beneficial if any learning or developmental differences are present. Because so few cases have been reported, the full range of possible symptoms and long-term outcomes is still being understood.
Also known as:
Key symptoms:
Webbed or fused fingers or toes (syndactyly)Involuntary eye movements (nystagmus)Reduced visual sharpnessDifficulty with depth perceptionPossible developmental delayPossible limb abnormalities beyond syndactylyPossible learning difficultiesSensitivity to light
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Syndactyly-nystagmus syndrome due to 2q31.1 microduplication.
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Specialists
View all specialists →No specialists are currently listed for Syndactyly-nystagmus syndrome due to 2q31.1 microduplication.
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 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication.
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Caregiver Resources
NORD Caregiver Resources
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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 exact size and location of my child's chromosomal duplication, and which genes are affected?,Was this duplication inherited from a parent or did it occur spontaneously?,What is the recommended timing for syndactyly surgery, and what outcomes can we expect?,What treatments are available to help manage the nystagmus and improve vision?,Should we have developmental assessments done, and how often?,Are there other health issues we should screen for given this chromosomal change?,What does this diagnosis mean for future pregnancies in our family?
Common questions about Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
What is Syndactyly-nystagmus syndrome due to 2q31.1 microduplication?
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication is an extremely rare genetic condition caused by a small extra copy (duplication) of genetic material on the long arm of chromosome 2, specifically in the region known as 2q31.1. This condition primarily affects two parts of the body: the hands or feet and the eyes. Syndactyly refers to webbing or fusion of the fingers or toes, where two or more digits are joined together. Nystagmus refers to involuntary, repetitive eye movements that can affect vision and depth perception. Because this is a chromosomal microduplication syndrome, th
At what age does Syndactyly-nystagmus syndrome due to 2q31.1 microduplication typically begin?
Typical onset of Syndactyly-nystagmus syndrome due to 2q31.1 microduplication is neonatal. Age of onset can vary across affected individuals.