Living with Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
A rare syndrome with early skull closure, extra brain fluid, a Chiari brain difference, and fused forearm bones.
Understanding Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Other findings can include narrow eye openings, small low-set ears, a small groove above the lip, kidney differences, and underdeveloped genitals. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of skull bones (craniosynostosis)
- Chiari malformation
- Fused forearm bones (radioulnar synostosis)
- Moderate intellectual disability
- Small lower jaw (micrognathia)
- Missing kidney
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It doesn't name a gene.
Also known as: berant syndrome; capra demarco syndrome; capra-demarco syndrome; craniosynostosis, hydrocephalus, arnold chiari i malformation, radioulnar synostosis; familial scaphocephaly with radioulnar synostosis syndrome; familial scaphocephaly-radioulnar synostosis syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome.
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