Overview
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the brain, face, and eyes. The syndrome is sometimes referred to by its Orphanet designation (ORPHA:1970) and is characterized by a combination of unusual facial features (facial dysmorphism), an abnormally large head (macrocephaly), severe nearsightedness (myopia), and a brain malformation known as Dandy-Walker malformation, which involves abnormal development of the cerebellum (the part of the brain that controls balance and coordination) and fluid-filled spaces in the brain. Children born with this condition typically show distinctive facial features that may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other subtle differences in facial structure. The Dandy-Walker malformation can lead to increased pressure in the brain due to fluid buildup (hydrocephalus), which may cause developmental delays and problems with movement and coordination. Myopia in this syndrome can be quite significant and may require early and ongoing eye care. Because this syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on addressing each symptom individually. This may include surgical intervention for hydrocephalus (such as placement of a shunt to drain excess fluid), corrective lenses or other treatments for severe myopia, physical therapy for motor delays, and special education support for any intellectual or developmental challenges. A team of specialists working together is essential for the best possible outcomes.
Key symptoms:
Abnormally large head size (macrocephaly)Unusual facial features such as broad forehead and widely spaced eyesSevere nearsightedness (myopia)Dandy-Walker brain malformationBuildup of fluid in the brain (hydrocephalus)Developmental delaysProblems with balance and coordinationIntellectual disability (variable severity)Low muscle tone (hypotonia)Delayed motor milestones such as sitting and walkingFlat nasal bridgePossible seizuresShort stature
Clinical phenotype terms (29)— 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 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation 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 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome.
Community
No community posts yet. Be the first to share your experience with Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome.
Start the conversation →Latest news about Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
No recent news articles for Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome.
Follow this condition to be notified when news becomes available.
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 the Dandy-Walker malformation in my child, and is hydrocephalus present?,Will my child need surgery for fluid buildup in the brain?,How often should my child have eye exams, and what complications should we watch for?,What therapies (physical, occupational, speech) do you recommend, and how often?,What developmental milestones should we be tracking, and when should we be concerned?,Is genetic testing recommended for our family, and could this condition affect future pregnancies?,Are there any clinical trials or research studies we should know about?
Common questions about Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
What is Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome?
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the brain, face, and eyes. The syndrome is sometimes referred to by its Orphanet designation (ORPHA:1970) and is characterized by a combination of unusual facial features (facial dysmorphism), an abnormally large head (macrocephaly), severe nearsightedness (myopia), and a brain malformation known as Dandy-Walker malformation, which involves abnormal development of the cerebellum (the part of the brain that controls balance and coordin
How is Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome inherited?
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome typically begin?
Typical onset of Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is neonatal. Age of onset can vary across affected individuals.