Overview
Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems, primarily the face, skeleton, and brain development. People with this syndrome are born with unusual facial features (craniofacial dysmorphism), which may include an abnormally shaped skull, widely spaced eyes, a flat nasal bridge, and other distinctive facial characteristics. Skeletal problems are also a hallmark of this condition and can include short stature, abnormal curvature of the spine, joint problems, and other bone abnormalities. Intellectual disability, ranging from mild to moderate, is another core feature, and affected individuals may experience delays in speech, learning, and overall development. Because this syndrome is so rare, the full range of symptoms and their severity can vary from person to person. Some individuals may also have additional features such as hearing problems, vision issues, or heart defects. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and may involve a team of specialists including orthopedic surgeons, speech therapists, special education professionals, and other healthcare providers. Early intervention with developmental support and therapies can help affected individuals reach their fullest potential. Ongoing research aims to better understand the genetic basis and natural history of this syndrome.
Also known as:
Key symptoms:
Unusual facial featuresAbnormally shaped skullWidely spaced eyesFlat nasal bridgeShort statureBone and skeletal abnormalitiesAbnormal curvature of the spineJoint problems or stiffnessIntellectual disabilityDelayed speech and language developmentLearning difficultiesDelayed motor milestonesPossible hearing problemsPossible vision problems
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 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Craniofacial dysmorphism-skeletal anomalies-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 Craniofacial dysmorphism-skeletal anomalies-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 genetic testing should my child have to confirm the diagnosis?,What specialists should be part of my child's care team?,What therapies (speech, occupational, physical) are recommended and how often?,Are there any skeletal problems that need to be monitored or treated now?,What educational supports and accommodations should I request for my child?,Are there any complications I should watch for as my child grows?,Are there any research studies or registries we can participate in?
Common questions about Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome
What is Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome?
Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome is an extremely rare genetic condition that affects multiple body systems, primarily the face, skeleton, and brain development. People with this syndrome are born with unusual facial features (craniofacial dysmorphism), which may include an abnormally shaped skull, widely spaced eyes, a flat nasal bridge, and other distinctive facial characteristics. Skeletal problems are also a hallmark of this condition and can include short stature, abnormal curvature of the spine, joint problems, and other bone abnormalities. Inte
How is Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome inherited?
Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome typically begin?
Typical onset of Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.