Overview
Cranioacrofacial syndrome is an extremely rare genetic condition that was previously listed in medical databases but has since been marked as obsolete, meaning it may have been reclassified or merged with another recognized condition. The original description of this syndrome involved abnormalities affecting the skull (cranio-), the hands and feet (acro-), and the face (facial). Patients described with this condition typically showed unusual facial features, abnormalities of the fingers and toes, and changes in the shape of the skull. Because so few cases were ever reported in the medical literature, detailed information about this condition is very limited. Since this entry is now considered obsolete in the Orphanet classification system, it is possible that the features originally described under this name are now recognized as part of another known craniofacial or acrofacial syndrome. Patients or families who were given this diagnosis in the past should consult with a clinical geneticist to determine whether a more current diagnosis applies. Modern genetic testing tools, such as whole exome or whole genome sequencing, may help clarify the underlying cause and provide a more precise diagnosis. Treatment has historically been supportive and symptom-based, focusing on managing the specific skeletal, facial, and limb abnormalities present in each individual.
Also known as:
Key symptoms:
Unusual skull shapeAbnormal facial featuresShort or malformed fingersShort or malformed toesWide-set eyesFlat or underdeveloped midfaceSmall jawPossible intellectual disabilityPossible growth delays
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Cranioacrofacial syndrome.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Cranioacrofacial 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 OBSOLETE: Cranioacrofacial 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.Is this diagnosis still considered valid, or should we pursue updated genetic testing to get a more current diagnosis?,What specific genetic tests would you recommend to clarify the underlying cause?,Are there any surgical interventions that could help my child's skull or limb abnormalities?,What developmental milestones should we be watching for, and when should we be concerned?,Are there any related conditions we should be screened for?,What is the chance that future children could be affected?,Can you refer us to a craniofacial team for comprehensive care?
Common questions about OBSOLETE: Cranioacrofacial syndrome
What is OBSOLETE: Cranioacrofacial syndrome?
Cranioacrofacial syndrome is an extremely rare genetic condition that was previously listed in medical databases but has since been marked as obsolete, meaning it may have been reclassified or merged with another recognized condition. The original description of this syndrome involved abnormalities affecting the skull (cranio-), the hands and feet (acro-), and the face (facial). Patients described with this condition typically showed unusual facial features, abnormalities of the fingers and toes, and changes in the shape of the skull. Because so few cases were ever reported in the medical lite
At what age does OBSOLETE: Cranioacrofacial syndrome typically begin?
Typical onset of OBSOLETE: Cranioacrofacial syndrome is neonatal. Age of onset can vary across affected individuals.