Overview
Preaxial polydactyly-colobomata-intellectual disability syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its three main features: preaxial polydactyly (extra fingers or toes on the thumb or big toe side of the hands or feet), colobomata (gaps or defects in parts of the eye, such as the iris, retina, or eyelid), and intellectual disability (difficulties with learning and thinking skills). This syndrome is sometimes also referred to as Varadi-Papp syndrome or preaxial polydactyly-coloboma-mental retardation syndrome. Because this condition affects the eyes, hands, feet, and brain development, children born with it may have a range of challenges from birth. The extra digits may vary in size and function, and the eye defects can affect vision to different degrees depending on which structures of the eye are involved. Intellectual disability can range from mild to more significant, affecting how a child learns and develops over time. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually. Surgery may be needed to remove extra digits or improve hand and foot function. Eye problems are managed by ophthalmologists, and children benefit from early intervention programs including speech therapy, occupational therapy, and special education support to help them reach their full potential. Because so few cases have been reported in the medical literature, much about this condition remains poorly understood, and care is tailored to each individual's specific needs.
Also known as:
Key symptoms:
Extra fingers or toes on the thumb or big toe sideGaps or defects in parts of the eye (coloboma)Intellectual disability or learning difficultiesVision problemsDelayed developmental milestonesUnusual facial featuresSpeech delaysShort statureAbnormalities of the hands or feet
Clinical phenotype terms (9)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Preaxial polydactyly-colobomata-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Preaxial polydactyly-colobomata-intellectual disability 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 Preaxial polydactyly-colobomata-intellectual disability 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.How severe is my child's eye coloboma, and how will it affect their vision over time?,When is the best time to have surgery for the extra fingers or toes?,What early intervention therapies do you recommend, and how often should they occur?,Should we pursue genetic testing, and what might it tell us about the cause?,What is the chance of having another child with this condition?,Are there any specialists or centers with experience in this specific syndrome?,What educational supports should we put in place as my child grows?
Common questions about Preaxial polydactyly-colobomata-intellectual disability syndrome
What is Preaxial polydactyly-colobomata-intellectual disability syndrome?
Preaxial polydactyly-colobomata-intellectual disability syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its three main features: preaxial polydactyly (extra fingers or toes on the thumb or big toe side of the hands or feet), colobomata (gaps or defects in parts of the eye, such as the iris, retina, or eyelid), and intellectual disability (difficulties with learning and thinking skills). This syndrome is sometimes also referred to as Varadi-Papp syndrome or preaxial polydactyly-coloboma-mental retardation syndrome. Because this condit
How is Preaxial polydactyly-colobomata-intellectual disability syndrome inherited?
Preaxial polydactyly-colobomata-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Preaxial polydactyly-colobomata-intellectual disability syndrome typically begin?
Typical onset of Preaxial polydactyly-colobomata-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.