Living with Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
A rare syndrome with early skull closure, a brain difference at the back of the head, and extra fluid in the brain.
Understanding Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
It includes closure of a skull seam along the top of the head (sagittal craniosynostosis), a Dandy-Walker malformation (a difference in the cerebellum), and hydrocephalus (extra fluid in the brain). Facial features include a long narrow head, wide-set eyes, and a small jaw. Development may be delayed to varying degrees. It starts in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dandy-Walker malformation
- Extra fluid in the brain (hydrocephalus)
- Early closure of skull bones
- Intellectual disability
- Crossed eyes (strabismus)
- Optic nerve damage (optic atrophy)
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 Dandy-Walker Alliance, Inc. 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 is autosomal dominant, meaning one changed copy of the gene can be enough to cause it. GARD doesn't name a gene.
Also known as: braddock-jones-superneau syndrome; dandy-walker malformation with sagittal craniosynostosis and hydrocephalus; sagittal craniosynostosis, dandy-walker malformation and hydrocephalus
Patient organizations
- Dandy-Walker Alliance, Inc.Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome · United States
- 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-Dandy-Walker malformation-hydrocephalus syndrome.
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