Overview
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome is an extremely rare condition that combines three major problems affecting the skull and brain. Craniosynostosis means that one or more of the joints (sutures) between the bones of a baby's skull close too early, before the brain has finished growing. This can cause the head to develop an abnormal shape and can put pressure on the growing brain. The Dandy-Walker malformation is a brain abnormality present at birth that involves the cerebellum (the part of the brain that controls movement and balance) and the fluid-filled spaces around it. In this malformation, part of the cerebellum may be underdeveloped and the fluid-filled space at the back of the brain is enlarged. Hydrocephalus, sometimes called "water on the brain," occurs when too much cerebrospinal fluid builds up inside the brain's cavities, creating harmful pressure. Together, these three features can lead to developmental delays, problems with movement and coordination, increased head size, and other neurological difficulties. Treatment typically involves surgery to correct the premature skull fusion, placement of a shunt to drain excess fluid from the brain, and ongoing supportive therapies to help with development. Because this syndrome is so rare, management is highly individualized and requires a team of specialists working together.
Also known as:
Key symptoms:
Abnormal head shape due to early skull bone fusionEnlarged head size (macrocephaly)Buildup of fluid in the brain (hydrocephalus)Developmental delaysProblems with balance and coordinationIntellectual disability (variable severity)Bulging soft spot (fontanelle) in infantsIrritability or excessive crying in infantsVomiting related to increased brain pressureDifficulty with feedingSeizuresVision problemsMuscle tone abnormalities (too stiff or too floppy)Delayed motor milestones such as sitting and walking
Clinical phenotype terms (11)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome.
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Specialists
View all specialists →No specialists are currently listed for Craniosynostosis-Dandy-Walker malformation-hydrocephalus 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-Dandy-Walker malformation-hydrocephalus 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 when should surgery be performed?,Does my child need a shunt for hydrocephalus, and what are the signs of shunt malfunction I should watch for?,What is the expected impact on my child's brain development and learning?,What therapies should we start, and how often should they occur?,Should we pursue genetic testing, and what would the results mean for future pregnancies?,How often will my child need follow-up imaging and specialist visits?,Are there any clinical trials or research studies that might be relevant for my child?
Common questions about Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
What is Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome?
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome is an extremely rare condition that combines three major problems affecting the skull and brain. Craniosynostosis means that one or more of the joints (sutures) between the bones of a baby's skull close too early, before the brain has finished growing. This can cause the head to develop an abnormal shape and can put pressure on the growing brain. The Dandy-Walker malformation is a brain abnormality present at birth that involves the cerebellum (the part of the brain that controls movement and balance) and the fluid-filled spaces
At what age does Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome typically begin?
Typical onset of Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome is neonatal. Age of onset can vary across affected individuals.