Craniosynostosis-dental anomalies

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ORPHA:284149OMIM:614188Q87.0
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Overview

Craniosynostosis-dental anomalies is a very rare genetic condition that combines two main types of problems: early fusion of the skull bones (craniosynostosis) and abnormalities of the teeth (dental anomalies). In a healthy baby, the skull bones are separated by soft spots (fontanelles) and flexible seams (sutures) that allow the brain to grow properly. In this condition, one or more of these seams close too early, which can change the shape of the head and, in some cases, put pressure on the growing brain. At the same time, affected individuals may have missing teeth, extra teeth, teeth that are oddly shaped, or teeth that come in late or in unusual positions. The severity of this condition can vary from person to person. Some individuals may have mild skull shape changes and minor dental issues, while others may have more significant skull involvement that requires surgical intervention. Additional features may include facial asymmetry and other craniofacial differences. Because this is such a rare condition, the full range of symptoms and long-term outcomes is still being studied. Treatment typically involves a team approach. Surgery may be needed to release the fused skull sutures and allow normal brain growth. Dental care is also important and may include orthodontic treatment, dental implants, or other procedures to address missing or misaligned teeth. Regular follow-up with multiple specialists helps ensure the best possible outcomes for affected individuals.

Also known as:

Key symptoms:

Abnormal head shape due to early skull bone fusionMissing teeth or fewer teeth than normalExtra teethTeeth that are oddly shaped or sizedDelayed eruption of teethFacial asymmetryRidging along skull suturesRaised pressure inside the skull (in some cases)Widely spaced teethUnderdeveloped upper or lower jawMalocclusion (teeth that don't line up properly)

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Craniosynostosis-dental anomalies.

View clinical trials →

No actively recruiting trials found for Craniosynostosis-dental anomalies at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Craniosynostosis-dental anomalies community →

No specialists are currently listed for Craniosynostosis-dental anomalies.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Craniosynostosis-dental anomalies.

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Community

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Latest news about Craniosynostosis-dental anomalies

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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.Which skull sutures are affected, and how severe is the fusion?,When should surgery be performed, and what type of surgery is recommended?,What are the risks of surgery and what is the expected recovery time?,How will we monitor for increased pressure inside the skull?,What dental problems should we expect, and when should dental treatment begin?,Is genetic testing recommended for our family, and what would the results mean?,Are there any developmental milestones we should watch closely?

Common questions about Craniosynostosis-dental anomalies

What is Craniosynostosis-dental anomalies?

Craniosynostosis-dental anomalies is a very rare genetic condition that combines two main types of problems: early fusion of the skull bones (craniosynostosis) and abnormalities of the teeth (dental anomalies). In a healthy baby, the skull bones are separated by soft spots (fontanelles) and flexible seams (sutures) that allow the brain to grow properly. In this condition, one or more of these seams close too early, which can change the shape of the head and, in some cases, put pressure on the growing brain. At the same time, affected individuals may have missing teeth, extra teeth, teeth that

At what age does Craniosynostosis-dental anomalies typically begin?

Typical onset of Craniosynostosis-dental anomalies is neonatal. Age of onset can vary across affected individuals.