Overview
Familial scaphocephaly syndrome is a very rare genetic condition that affects the shape of the skull. Scaphocephaly means the skull is long and narrow, shaped somewhat like a boat when viewed from above. This happens because one of the natural seams (called sutures) between the skull bones closes too early during a baby's development, a process known as craniosynostosis. Specifically, in scaphocephaly, the sagittal suture — the seam running along the top of the head from front to back — fuses prematurely. When this condition runs in families, it is referred to as familial scaphocephaly syndrome. Babies born with this condition typically have a noticeably elongated head shape, a prominent forehead, and sometimes a ridge along the top of the skull. In most cases, brain development is normal, but if the skull fusion is severe, it can sometimes lead to increased pressure inside the skull, which may affect brain growth and development if left untreated. Some affected individuals may also have subtle differences in facial features. Treatment usually involves surgery during infancy to reshape the skull and allow the brain room to grow normally. The surgery is generally very effective, and most children go on to develop normally. Early diagnosis and timely surgical intervention are key to achieving the best outcomes. Because this condition runs in families, genetic counseling is recommended for affected families to understand the chances of the condition occurring in future children.
Key symptoms:
Long, narrow head shapeProminent or bulging foreheadRidge along the top of the skullFlattened sides of the headProminent back of the head (occiput)Slightly raised soft spot (fontanelle)Possible increased head circumferencePossible headaches in older children if pressure buildsPossible developmental delays if untreatedSubtle facial asymmetry
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Familial scaphocephaly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Familial scaphocephaly 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 Familial scaphocephaly 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.What type of surgery is recommended for my child, and when should it be done?,What are the risks and benefits of the different surgical approaches?,Will my child need to wear a helmet after surgery, and for how long?,How will you monitor for increased pressure inside the skull?,Should our family have genetic testing, and what would the results mean for future pregnancies?,What developmental milestones should I watch for after surgery?,How often will my child need follow-up visits, and for how long?
Common questions about Familial scaphocephaly syndrome
What is Familial scaphocephaly syndrome?
Familial scaphocephaly syndrome is a very rare genetic condition that affects the shape of the skull. Scaphocephaly means the skull is long and narrow, shaped somewhat like a boat when viewed from above. This happens because one of the natural seams (called sutures) between the skull bones closes too early during a baby's development, a process known as craniosynostosis. Specifically, in scaphocephaly, the sagittal suture — the seam running along the top of the head from front to back — fuses prematurely. When this condition runs in families, it is referred to as familial scaphocephaly syndrom
How is Familial scaphocephaly syndrome inherited?
Familial scaphocephaly syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial scaphocephaly syndrome typically begin?
Typical onset of Familial scaphocephaly syndrome is neonatal. Age of onset can vary across affected individuals.