Overview
Dandy-Walker malformation-postaxial polydactyly syndrome is an extremely rare condition that combines two main features: a brain abnormality called Dandy-Walker malformation and extra fingers or toes on the outer (pinky) side of the hands or feet, known as postaxial polydactyly. The Dandy-Walker malformation involves abnormal development of the cerebellum (the part of the brain that controls balance and coordination) and a buildup of fluid in the back of the brain. This fluid buildup can lead to increased pressure inside the skull, a condition called hydrocephalus. Children born with this syndrome may show signs of developmental delay, problems with balance and coordination, and an enlarged head due to hydrocephalus. The extra digits on the hands or feet are usually noticed at birth. Some affected individuals may also have intellectual disability of varying degrees, depending on the severity of the brain malformation. Treatment is focused on managing symptoms rather than curing the underlying condition. Hydrocephalus may require surgical placement of a shunt to drain excess fluid from the brain. The extra fingers or toes can be surgically removed if they cause functional problems. Early intervention services including physical therapy, occupational therapy, and speech therapy can help children reach their developmental potential. The long-term outlook varies widely depending on the severity of the brain malformation and how well hydrocephalus is managed.
Also known as:
Key symptoms:
Extra fingers or toes on the pinky side of the hand or footEnlarged head size due to fluid buildup in the brainDevelopmental delaysProblems with balance and coordinationIntellectual disabilityAbnormal eye movementsIrritability in infantsVomiting related to increased brain pressureDifficulty with fine motor skillsDelayed walkingSpeech delaysMuscle tone abnormalities
Clinical phenotype terms (2)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Dandy-Walker malformation-postaxial polydactyly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Dandy-Walker malformation-postaxial polydactyly 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 Dandy-Walker malformation-postaxial polydactyly syndrome.
Community
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Caregiver Resources
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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 the Dandy-Walker malformation in my child, and what does that mean for their development?,Does my child have hydrocephalus, and will they need a shunt?,What signs of shunt malfunction should I watch for at home?,What therapies and early intervention services do you recommend?,Should we pursue genetic testing, and what would the results mean for future pregnancies?,What developmental milestones should I track, and when should I be concerned?,Are there any clinical trials or research studies that might be relevant for my child?
Common questions about Dandy-Walker malformation-postaxial polydactyly syndrome
What is Dandy-Walker malformation-postaxial polydactyly syndrome?
Dandy-Walker malformation-postaxial polydactyly syndrome is an extremely rare condition that combines two main features: a brain abnormality called Dandy-Walker malformation and extra fingers or toes on the outer (pinky) side of the hands or feet, known as postaxial polydactyly. The Dandy-Walker malformation involves abnormal development of the cerebellum (the part of the brain that controls balance and coordination) and a buildup of fluid in the back of the brain. This fluid buildup can lead to increased pressure inside the skull, a condition called hydrocephalus. Children born with this syn
How is Dandy-Walker malformation-postaxial polydactyly syndrome inherited?
Dandy-Walker malformation-postaxial polydactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Dandy-Walker malformation-postaxial polydactyly syndrome typically begin?
Typical onset of Dandy-Walker malformation-postaxial polydactyly syndrome is neonatal. Age of onset can vary across affected individuals.