Overview
Familial scaphocephaly syndrome, McGillivray type, is an extremely rare genetic condition that affects the development of the skull and other parts of the body. The name 'scaphocephaly' refers to a long, narrow head shape caused by the early fusion (craniosynostosis) of the sagittal suture, which is the seam running along the top of the skull from front to back. When this suture closes too early, the skull cannot grow sideways normally and instead grows longer than usual, giving the head a boat-like shape. In the McGillivray type, the skull abnormality occurs alongside other features, which may include heart defects, intellectual disability or developmental delays, and distinctive facial features. Because this is a familial (inherited) form, it tends to run in families, and multiple family members may be affected to varying degrees. Because this condition is so rare, the treatment approach is individualized. Surgery may be needed to correct the skull shape and relieve pressure on the growing brain, especially in infancy. Heart defects, if present, may also require surgical or medical management. Developmental support services such as speech therapy, occupational therapy, and special education may be recommended depending on the child's needs. Long-term follow-up with multiple specialists is typically necessary to monitor growth, development, and any associated complications.
Key symptoms:
Long, narrow head shape (scaphocephaly)Early fusion of skull bones (craniosynostosis)Heart defectsIntellectual disability or learning difficultiesDevelopmental delaysDistinctive facial featuresWidely spaced eyesBroad or prominent foreheadShort stature or growth delaysLow-set or abnormally shaped ears
Clinical phenotype terms (14)— hover any for plain English
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, McGillivray type.
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Specialists
View all specialists →No specialists are currently listed for Familial scaphocephaly syndrome, McGillivray type.
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, McGillivray type.
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.How severe is my child's craniosynostosis, and when should surgery be performed?,Does my child have any heart defects, and if so, what treatment is needed?,What developmental milestones should I watch for, and when should I be concerned?,Is genetic testing available to confirm the diagnosis and help with family planning?,What therapies (speech, occupational, physical) does my child need right now?,How often should my child have follow-up appointments, and with which specialists?,What is the chance that future children could also be affected?
Common questions about Familial scaphocephaly syndrome, McGillivray type
What is Familial scaphocephaly syndrome, McGillivray type?
Familial scaphocephaly syndrome, McGillivray type, is an extremely rare genetic condition that affects the development of the skull and other parts of the body. The name 'scaphocephaly' refers to a long, narrow head shape caused by the early fusion (craniosynostosis) of the sagittal suture, which is the seam running along the top of the skull from front to back. When this suture closes too early, the skull cannot grow sideways normally and instead grows longer than usual, giving the head a boat-like shape. In the McGillivray type, the skull abnormality occurs alongside other features, which m
How is Familial scaphocephaly syndrome, McGillivray type inherited?
Familial scaphocephaly syndrome, McGillivray type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial scaphocephaly syndrome, McGillivray type typically begin?
Typical onset of Familial scaphocephaly syndrome, McGillivray type is neonatal. Age of onset can vary across affected individuals.