Overview
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome is an extremely rare genetic condition that affects multiple parts of the body, particularly the skull, brain, and forearms. The name describes the main features of the condition. Craniosynostosis means that one or more of the joints (sutures) between the skull bones close too early, which can restrict brain growth and change the shape of the head. Hydrocephalus refers to a buildup of fluid in the brain, which increases pressure inside the skull. Arnold-Chiari malformation type I means that part of the brain (the cerebellar tonsils) pushes downward through the opening at the base of the skull into the spinal canal. Radioulnar synostosis means that the two bones of the forearm (the radius and ulna) are fused together, limiting the ability to rotate the forearm. Because this syndrome involves both the brain and the skeletal system, affected individuals may experience a range of symptoms including abnormal head shape, headaches, balance problems, neck pain, and limited arm movement. The severity can vary from person to person. Treatment typically involves surgery to address the craniosynostosis and hydrocephalus, and may include procedures to manage the Chiari malformation and forearm fusion. Early diagnosis and a coordinated team of specialists are important for the best possible outcomes.
Also known as:
Key symptoms:
Abnormal head shape due to early fusion of skull bonesIncreased pressure inside the skullBuildup of fluid in the brain (hydrocephalus)HeadachesBalance and coordination problemsNeck pain or stiffnessDifficulty swallowingNumbness or tingling in the handsLimited ability to rotate the forearm (cannot turn palm up or down)Restricted elbow movementVision problemsNausea or vomiting related to increased brain pressureSleep apnea or breathing difficultiesDevelopmental delays in some cases
Clinical phenotype terms (41)— 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 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis 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-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis 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.How severe is my child's craniosynostosis, and when should surgery be performed?,Does my child need a shunt for hydrocephalus, and what are the signs of shunt malfunction?,Is the Chiari malformation causing symptoms that need surgical treatment now?,What can be done to improve forearm movement, and when is the best time for surgery?,Should we pursue genetic testing, and what would the results mean for our family?,What developmental milestones should we watch for, and when should we be concerned?,How often will my child need follow-up imaging and specialist visits?
Common questions about Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
What is Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome?
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome is an extremely rare genetic condition that affects multiple parts of the body, particularly the skull, brain, and forearms. The name describes the main features of the condition. Craniosynostosis means that one or more of the joints (sutures) between the skull bones close too early, which can restrict brain growth and change the shape of the head. Hydrocephalus refers to a buildup of fluid in the brain, which increases pressure inside the skull. Arnold-Chiari malformation type I means that part of
How is Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome inherited?
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome typically begin?
Typical onset of Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome is neonatal. Age of onset can vary across affected individuals.