Overview
Craniodigital-intellectual disability syndrome is an extremely rare genetic condition that affects the development of the skull (cranium), fingers and toes (digits), and brain function. People with this syndrome typically have unusual skull shape, abnormalities of the fingers or toes, and intellectual disability of varying degrees. The condition is present from birth, and the physical features may be noticed shortly after delivery or during early childhood. The skull abnormalities can include an unusually shaped head, such as a narrow or tall skull, and sometimes premature fusion of skull bones (craniosynostosis). Finger and toe abnormalities may include short fingers, curved fingers, or broad thumbs. Intellectual disability can range from mild to moderate, affecting learning, speech development, and daily functioning. Because this syndrome is so rare, there is very limited information about it in the medical literature, with only a handful of reported cases. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and may include surgery for skull abnormalities, occupational therapy, speech therapy, and special education support. A team of specialists typically works together to address the various aspects of the syndrome and help affected individuals reach their full potential.
Also known as:
Key symptoms:
Unusual skull shapeIntellectual disabilityShort fingers or toesCurved fingersBroad thumbsDelayed speech developmentLearning difficultiesPremature fusion of skull bonesDistinctive facial featuresDelayed developmental milestonesShort stature
Clinical phenotype terms (14)— 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 Craniodigital-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Craniodigital-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 Craniodigital-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.What specific features of this syndrome does my child have, and how severe are they?,Is genetic testing recommended for our family, and what might it tell us?,What therapies should we start right away to support my child's development?,Does my child need surgery for any skull or hand abnormalities?,What kind of educational support will my child need?,Are there any complications we should watch for as my child grows?,What is the chance of having another child with this condition?
Common questions about Craniodigital-intellectual disability syndrome
What is Craniodigital-intellectual disability syndrome?
Craniodigital-intellectual disability syndrome is an extremely rare genetic condition that affects the development of the skull (cranium), fingers and toes (digits), and brain function. People with this syndrome typically have unusual skull shape, abnormalities of the fingers or toes, and intellectual disability of varying degrees. The condition is present from birth, and the physical features may be noticed shortly after delivery or during early childhood. The skull abnormalities can include an unusually shaped head, such as a narrow or tall skull, and sometimes premature fusion of skull bon
How is Craniodigital-intellectual disability syndrome inherited?
Craniodigital-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Craniodigital-intellectual disability syndrome typically begin?
Typical onset of Craniodigital-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.