Overview
Pterygium colli-intellectual disability-digital anomalies syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its three main features: pterygium colli (a webbed or broad neck caused by extra skin folds), intellectual disability of varying degrees, and digital anomalies (unusual features of the fingers and toes). Children born with this syndrome may have a short or webbed neck that can resemble features seen in Turner syndrome or Noonan syndrome, but this condition is distinct. The intellectual disability can range from mild to moderate, affecting learning, speech development, and daily functioning. Digital anomalies may include short fingers (brachydactyly), unusually shaped fingers, or other hand and foot differences. Some affected individuals may also have additional features such as short stature, facial differences, or skeletal abnormalities. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on supportive care, including special education services, speech therapy, occupational therapy, and orthopedic care when needed. Early intervention programs can help children reach their full developmental potential. A team of specialists typically works together to address the various aspects of this condition.
Also known as:
Key symptoms:
Webbed or broad neck (pterygium colli)Intellectual disabilityAbnormal fingers or toesShort fingers (brachydactyly)Short statureDelayed speech and language developmentLearning difficultiesUnusual facial featuresLow-set earsLimited range of motion in jointsDelayed motor milestones
Clinical phenotype terms (16)— 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 Pterygium colli-intellectual disability-digital anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Pterygium colli-intellectual disability-digital anomalies 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 Pterygium colli-intellectual disability-digital anomalies 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 specific evaluations does my child need to confirm this diagnosis?,Should we pursue genetic testing such as whole exome sequencing?,What therapies should we start right away to support my child's development?,How often should my child be seen by each specialist?,Are there any other conditions we should rule out that look similar?,What educational resources and support services are available for my child?,Is there any ongoing research or clinical trials related to this condition?
Common questions about Pterygium colli-intellectual disability-digital anomalies syndrome
What is Pterygium colli-intellectual disability-digital anomalies syndrome?
Pterygium colli-intellectual disability-digital anomalies syndrome is an extremely rare genetic condition that affects multiple parts of the body. The name describes its three main features: pterygium colli (a webbed or broad neck caused by extra skin folds), intellectual disability of varying degrees, and digital anomalies (unusual features of the fingers and toes). Children born with this syndrome may have a short or webbed neck that can resemble features seen in Turner syndrome or Noonan syndrome, but this condition is distinct. The intellectual disability can range from mild to moderate, a
How is Pterygium colli-intellectual disability-digital anomalies syndrome inherited?
Pterygium colli-intellectual disability-digital anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pterygium colli-intellectual disability-digital anomalies syndrome typically begin?
Typical onset of Pterygium colli-intellectual disability-digital anomalies syndrome is neonatal. Age of onset can vary across affected individuals.