Overview
Craniomicromelic syndrome is an extremely rare genetic condition that affects the development of the skull (cranium) and the limbs (micromelia means abnormally short limbs). This syndrome is present from birth and involves a combination of skeletal abnormalities that can be seen on physical examination and imaging studies. The condition falls under the broader category of multiple congenital anomaly syndromes. Key features of craniomicromelic syndrome include abnormalities of the skull bones, such as unusual shape or premature fusion of skull sutures (craniosynostosis), along with shortened or underdeveloped arms and legs. Affected individuals may also have facial differences, including a flattened facial profile, and other skeletal problems. Some cases have been associated with additional birth defects affecting other organ systems. Because this condition is so rare, with only a handful of cases described in the medical literature, there is limited information about the full range of symptoms and the best approaches to treatment. Management is primarily supportive and symptom-based, focusing on surgical correction of skull abnormalities when needed, orthopedic care for limb differences, and monitoring for any associated complications. A team of specialists is typically involved in the care of affected individuals.
Key symptoms:
Abnormal skull shapeShortened arms and legsFlattened facial featuresLow-set earsShort neckSmall jaw (micrognathia)Underdeveloped bonesJoint stiffness or limited range of motionShort staturePossible breathing difficulties due to facial structurePossible developmental delays
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 Craniomicromelic syndrome.
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Specialists
View all specialists →No specialists are currently listed for Craniomicromelic 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 Craniomicromelic 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 does my child have, and how severe are they?,Will my child need surgery for skull or limb abnormalities, and when?,What genetic testing should we pursue to better understand the cause?,What therapies should we start right away to support my child's development?,Are there any complications we should watch for as my child grows?,What is the chance of this condition occurring again in future pregnancies?,Can you connect us with other families or support groups for rare skeletal conditions?
Common questions about Craniomicromelic syndrome
What is Craniomicromelic syndrome?
Craniomicromelic syndrome is an extremely rare genetic condition that affects the development of the skull (cranium) and the limbs (micromelia means abnormally short limbs). This syndrome is present from birth and involves a combination of skeletal abnormalities that can be seen on physical examination and imaging studies. The condition falls under the broader category of multiple congenital anomaly syndromes. Key features of craniomicromelic syndrome include abnormalities of the skull bones, such as unusual shape or premature fusion of skull sutures (craniosynostosis), along with shortened o
How is Craniomicromelic syndrome inherited?
Craniomicromelic syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Craniomicromelic syndrome typically begin?
Typical onset of Craniomicromelic syndrome is neonatal. Age of onset can vary across affected individuals.