Overview
Craniosynostosis-fibular aplasia syndrome is an extremely rare condition that has been described in only a handful of cases in the medical literature. This condition is now classified as 'obsolete' in some databases, meaning it may have been reclassified or merged with another diagnosis as medical understanding has advanced. The syndrome was originally described as a combination of craniosynostosis (the premature fusion of one or more skull bones in a baby before the brain is fully grown) and fibular aplasia (the absence or severe underdevelopment of the fibula, which is the smaller bone in the lower leg). Craniosynostosis can lead to an abnormally shaped head and, in some cases, increased pressure on the brain. The absence of the fibula can cause significant problems with leg length, ankle stability, and walking ability. Because so few cases have been reported, the full range of symptoms, the underlying genetic cause, and the best treatment approaches remain poorly understood. Treatment has generally been supportive and surgical, focusing on correcting skull shape and addressing limb differences. Families affected by this condition should work closely with a team of specialists to manage the various aspects of the syndrome.
Also known as:
Key symptoms:
Abnormal head shape due to early fusion of skull bonesMissing or underdeveloped fibula (smaller lower leg bone)Shortened lower legsDifficulty walking or abnormal gaitAnkle instabilityLeg length differencesPossible increased pressure inside the skullPossible facial asymmetryPossible developmental delays
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Craniosynostosis-fibular aplasia syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Craniosynostosis-fibular aplasia syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Craniosynostosis-fibular aplasia 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: Craniosynostosis-fibular aplasia syndrome.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Craniosynostosis-fibular aplasia syndrome.
Start the conversation →Latest news about OBSOLETE: Craniosynostosis-fibular aplasia syndrome
No recent news articles for OBSOLETE: Craniosynostosis-fibular aplasia syndrome.
Follow this condition to be notified when news becomes available.
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 type of craniosynostosis does my child have, and how severe is it?,When should skull surgery be performed, and what technique do you recommend?,What are the options for managing the missing or underdeveloped fibula?,Should we pursue genetic testing, and what might it tell us?,What is the expected impact on my child's brain development and learning?,How often will my child need follow-up imaging or specialist visits?,Are there other families or support groups for children with similar conditions?
Common questions about OBSOLETE: Craniosynostosis-fibular aplasia syndrome
What is OBSOLETE: Craniosynostosis-fibular aplasia syndrome?
Craniosynostosis-fibular aplasia syndrome is an extremely rare condition that has been described in only a handful of cases in the medical literature. This condition is now classified as 'obsolete' in some databases, meaning it may have been reclassified or merged with another diagnosis as medical understanding has advanced. The syndrome was originally described as a combination of craniosynostosis (the premature fusion of one or more skull bones in a baby before the brain is fully grown) and fibular aplasia (the absence or severe underdevelopment of the fibula, which is the smaller bone in th
At what age does OBSOLETE: Craniosynostosis-fibular aplasia syndrome typically begin?
Typical onset of OBSOLETE: Craniosynostosis-fibular aplasia syndrome is neonatal. Age of onset can vary across affected individuals.