Overview
Craniosynostosis-microretrognathia-severe intellectual disability syndrome is a very rare genetic condition that affects the skull, jaw, and brain development. The name describes its three main features: craniosynostosis (the bones of the skull fuse together too early), microretrognathia (a very small jaw that is set back further than normal), and severe intellectual disability (significant challenges with learning, thinking, and daily skills). This condition is listed under Orphanet code 565858 and is sometimes referred to informally by its three core features. When the skull bones fuse too early, the brain does not have enough room to grow properly. This can cause increased pressure inside the skull, an unusual head shape, and problems with brain development. The small, recessed jaw can make breathing and feeding very difficult, especially in newborns and infants. Children with this syndrome typically have very significant delays in reaching developmental milestones such as sitting, walking, and talking. Treatment focuses on managing symptoms rather than curing the condition. Surgery may be needed to correct the skull shape and relieve pressure on the brain. Feeding support, breathing assistance, and intensive therapies such as speech, occupational, and physical therapy are important parts of care. A team of specialists works together to support the child and family throughout life.
Key symptoms:
Early fusion of skull bones (craniosynostosis) causing an abnormal head shapeVery small jaw that is set back further than normal (microretrognathia)Severe intellectual disability and significant learning difficultiesDifficulty feeding, especially in infancyBreathing problems due to the small jaw and airwayDelayed developmental milestones such as sitting, walking, and talkingIncreased pressure inside the skullUnusual facial featuresLimited or absent speech
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Craniosynostosis-microretrognathia-severe intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for Craniosynostosis-microretrognathia-severe intellectual disability 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 Craniosynostosis-microretrognathia-severe intellectual disability 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.What genetic testing do you recommend to find the cause of my child's condition, and what will the results tell us?,Does my child need skull surgery, and if so, when should it happen and what are the risks?,What can we do right now to make feeding and breathing safer for my child?,What therapies should we start immediately, and how often should my child receive them?,What developmental milestones should we realistically hope for, and how can we best support my child's progress?,Are there any clinical trials or research studies we should know about?,What support services and family resources are available to us?
Common questions about Craniosynostosis-microretrognathia-severe intellectual disability syndrome
What is Craniosynostosis-microretrognathia-severe intellectual disability syndrome?
Craniosynostosis-microretrognathia-severe intellectual disability syndrome is a very rare genetic condition that affects the skull, jaw, and brain development. The name describes its three main features: craniosynostosis (the bones of the skull fuse together too early), microretrognathia (a very small jaw that is set back further than normal), and severe intellectual disability (significant challenges with learning, thinking, and daily skills). This condition is listed under Orphanet code 565858 and is sometimes referred to informally by its three core features. When the skull bones fuse too
How is Craniosynostosis-microretrognathia-severe intellectual disability syndrome inherited?
Craniosynostosis-microretrognathia-severe intellectual disability syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Craniosynostosis-microretrognathia-severe intellectual disability syndrome typically begin?
Typical onset of Craniosynostosis-microretrognathia-severe intellectual disability syndrome is neonatal. Age of onset can vary across affected individuals.