Living with Dandy-Walker malformation-postaxial polydactyly syndrome
A rare genetic syndrome combining a brain difference (Dandy-Walker malformation) with extra fingers and toes.
Understanding Dandy-Walker malformation-postaxial polydactyly syndrome
Dandy-Walker malformation varies from person to person. It involves a fluid-filled cyst at the back of the skull, a partly or fully missing cerebellar vermis (middle part of the cerebellum), and sometimes extra fluid in the brain (hydrocephalus). Extra little fingers and toes can occur on both hands and feet. GARD lists onset before or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these as the most common:
- Dandy-Walker malformation of the brain
- Extra little finger (postaxial polydactyly)
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.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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.
- 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 recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: dandy-walker malformation with postaxial polydactyly syndrome; dwm with postaxial polydactyly; pierquin syndrome
Patient organizations
- Dandy-Walker Alliance, Inc.Dandy-Walker malformation-postaxial polydactyly syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Dandy-Walker malformation-postaxial polydactyly syndrome.
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