Living with Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
A very rare inherited condition with a large head, severe nearsightedness, a brain difference, and learning problems.
Understanding Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
It is seen in newborns. People also have short, broad fingernails and distinct facial features such as thick eyebrows and low-set ears. Seizures and bone or genital differences have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Larger-than-usual head (macrocephaly)
- Nearsightedness (myopia)
- Dandy-Walker malformation of the brain
- Fast, rhythmic eye movements (nystagmus)
- Muscle stiffness (hypertonia)
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 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
- 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
Changes in genes cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD does not name the gene.
Also known as: facial dysmorphism macrocephaly myopia dandy walker type
Patient organizations
- Dandy-Walker Alliance, Inc.Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome.
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