Overview
Craniofacial dysostosis-diaphyseal hyperplasia syndrome is an extremely rare genetic bone disorder that affects both the skull and the long bones of the body. The name describes its two main features: 'craniofacial dysostosis' refers to abnormal development of the bones of the skull and face, while 'diaphyseal hyperplasia' means there is excessive bone growth along the shafts (middle portions) of the long bones in the arms and legs. This condition is sometimes also referred to as Craniofacial dysostosis with diaphyseal hyperplasia or by its Orphanet designation ORPHA:1798. Patients with this syndrome typically show abnormal skull shape, widely spaced eyes, a flat midface, and thickening of the long bones visible on X-rays. The overgrowth of bone in the skull can sometimes lead to compression of nerves, which may cause hearing loss or vision problems. Other features can include short stature, dental abnormalities, and limb differences. Because this condition is so rare, there is no specific cure or targeted therapy available. Treatment is supportive and focuses on managing individual symptoms. This may include surgery to relieve pressure on nerves caused by bone overgrowth, hearing aids if hearing is affected, dental care, and orthopedic management for bone-related complications. A team of specialists is usually needed to provide comprehensive care. Research into the genetic basis of this condition is ongoing, and understanding the exact gene involved may open doors to more targeted treatments in the future.
Also known as:
Key symptoms:
Abnormal skull shapeWidely spaced eyesFlat or underdeveloped midfaceThickened long bonesShort statureHearing lossVision problemsDental abnormalitiesProminent foreheadLimb abnormalitiesNerve compression from bone overgrowthBroad nasal bridgeJoint stiffness
Clinical phenotype terms (36)— 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 Craniofacial dysostosis-diaphyseal hyperplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Craniofacial dysostosis-diaphyseal hyperplasia 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 Craniofacial dysostosis-diaphyseal hyperplasia 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 specific bones are affected in my child's case, and how severe is the involvement?,How often should we schedule imaging studies to monitor bone growth?,Are there any signs of nerve compression that we should watch for at home?,Should we pursue genetic testing, and what type would be most informative?,What surgical options might be needed now or in the future?,How can we best support hearing and vision if they become affected?,Are there any clinical trials or research studies we could participate in?
Common questions about Craniofacial dysostosis-diaphyseal hyperplasia syndrome
What is Craniofacial dysostosis-diaphyseal hyperplasia syndrome?
Craniofacial dysostosis-diaphyseal hyperplasia syndrome is an extremely rare genetic bone disorder that affects both the skull and the long bones of the body. The name describes its two main features: 'craniofacial dysostosis' refers to abnormal development of the bones of the skull and face, while 'diaphyseal hyperplasia' means there is excessive bone growth along the shafts (middle portions) of the long bones in the arms and legs. This condition is sometimes also referred to as Craniofacial dysostosis with diaphyseal hyperplasia or by its Orphanet designation ORPHA:1798. Patients with this
How is Craniofacial dysostosis-diaphyseal hyperplasia syndrome inherited?
Craniofacial dysostosis-diaphyseal hyperplasia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Craniofacial dysostosis-diaphyseal hyperplasia syndrome typically begin?
Typical onset of Craniofacial dysostosis-diaphyseal hyperplasia syndrome is neonatal. Age of onset can vary across affected individuals.