Overview
Osteosclerosis-developmental delay-craniosynostosis syndrome is an extremely rare genetic condition that affects bone development, brain development, and skull formation. The name describes its three main features: osteosclerosis (abnormally dense and hardened bones), developmental delay (slower than expected progress in learning, movement, or speech), and craniosynostosis (premature fusion of the skull bones in infants, which can restrict normal brain growth). In this condition, the bones throughout the body become denser than normal, which can be seen on X-rays. The early closure of skull sutures can lead to an abnormally shaped head and may increase pressure inside the skull if not treated. Children with this syndrome typically show delays in reaching developmental milestones such as sitting, walking, and talking. Some individuals may also have distinctive facial features and other skeletal abnormalities. Because this syndrome is so rare, there is no specific cure. Treatment focuses on managing individual symptoms. Surgery may be needed to correct craniosynostosis and relieve pressure on the brain. Early intervention programs including physical therapy, occupational therapy, and speech therapy can help children reach their developmental potential. A team of specialists is usually needed to provide comprehensive care.
Key symptoms:
Abnormally dense or hardened bonesEarly fusion of skull bones (craniosynostosis)Abnormal head shapeDevelopmental delayDelayed speech and language skillsDelayed motor milestones like sitting and walkingIntellectual disabilityUnusual facial featuresSkeletal abnormalitiesPossible increased pressure inside the skullShort stature or growth problems
Clinical phenotype terms (16)— hover any for plain English
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Osteosclerosis-developmental delay-craniosynostosis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Osteosclerosis-developmental delay-craniosynostosis 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 Osteosclerosis-developmental delay-craniosynostosis 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
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.How severe is my child's craniosynostosis, and will surgery be needed?,What developmental therapies should we start, and how often?,How will you monitor for increased pressure in the skull?,What signs should I watch for at home that would need urgent medical attention?,Is genetic testing available to identify the exact cause of this condition?,What is the expected developmental outlook for my child?,Are there any clinical trials or research studies we could participate in?
Common questions about Osteosclerosis-developmental delay-craniosynostosis syndrome
What is Osteosclerosis-developmental delay-craniosynostosis syndrome?
Osteosclerosis-developmental delay-craniosynostosis syndrome is an extremely rare genetic condition that affects bone development, brain development, and skull formation. The name describes its three main features: osteosclerosis (abnormally dense and hardened bones), developmental delay (slower than expected progress in learning, movement, or speech), and craniosynostosis (premature fusion of the skull bones in infants, which can restrict normal brain growth). In this condition, the bones throughout the body become denser than normal, which can be seen on X-rays. The early closure of skull s
At what age does Osteosclerosis-developmental delay-craniosynostosis syndrome typically begin?
Typical onset of Osteosclerosis-developmental delay-craniosynostosis syndrome is neonatal. Age of onset can vary across affected individuals.