Overview
Acrocraniofacial dysostosis is an extremely rare genetic condition that affects the development of the skull, face, and limbs. It belongs to a group of disorders called craniosynostosis syndromes, where one or more of the joints (sutures) between the bones of the skull close too early during a baby's development. This premature closure can affect the shape of the head and face and may put pressure on the growing brain. People with acrocraniofacial dysostosis typically have a distinctive facial appearance that may include a tall or pointed skull shape (called acrocephaly or turricephaly), widely spaced eyes, a flat or underdeveloped midface, and abnormalities of the hands and feet such as short fingers or fused digits. Some individuals may also experience intellectual disability, though this varies from person to person. Because this condition is so rare, there is limited published medical literature about it. Treatment is generally supportive and symptom-based. Surgery may be needed to correct skull shape, relieve pressure on the brain, or improve hand and foot function. A team of specialists including craniofacial surgeons, geneticists, and other healthcare providers typically manages care. Early diagnosis and intervention are important to optimize outcomes, particularly regarding brain development and function.
Also known as:
Key symptoms:
Abnormally shaped skull (tall or pointed head)Premature fusion of skull bonesWidely spaced eyesFlat or underdeveloped midfaceShort fingers or toesFused fingers or toes (webbing)Broad thumbs or big toesBulging or prominent eyesPossible intellectual disabilityPossible hearing lossDental abnormalitiesPossible breathing difficulties due to midface underdevelopmentPossible vision problems
Clinical phenotype terms (44)— 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 Acrocraniofacial dysostosis.
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Specialists
View all specialists →No specialists are currently listed for Acrocraniofacial dysostosis.
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 Acrocraniofacial dysostosis.
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 the craniosynostosis, and does my child need surgery soon?,Is there increased pressure on my child's brain, and how will you monitor this?,What surgeries might be needed, and what is the expected timeline?,Should we pursue genetic testing, and what would the results mean for our family?,What developmental milestones should I watch for, and when should I be concerned?,Are there therapies or early intervention programs that could help my child?,How often will my child need follow-up visits with each specialist?
Common questions about Acrocraniofacial dysostosis
What is Acrocraniofacial dysostosis?
Acrocraniofacial dysostosis is an extremely rare genetic condition that affects the development of the skull, face, and limbs. It belongs to a group of disorders called craniosynostosis syndromes, where one or more of the joints (sutures) between the bones of the skull close too early during a baby's development. This premature closure can affect the shape of the head and face and may put pressure on the growing brain. People with acrocraniofacial dysostosis typically have a distinctive facial appearance that may include a tall or pointed skull shape (called acrocephaly or turricephaly), wide
How is Acrocraniofacial dysostosis inherited?
Acrocraniofacial dysostosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Acrocraniofacial dysostosis typically begin?
Typical onset of Acrocraniofacial dysostosis is neonatal. Age of onset can vary across affected individuals.