Living with Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
A rare condition mostly affecting brain development, with a large head, brain fold differences, and sometimes extra fingers or toes.
Understanding Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
People are born with a large brain and head, which grow rapidly in the first 2 years. The brain has too many small, irregular folds in one area (bilateral perisylvian polymicrogyria). Fluid can build up in the brain (hydrocephalus). Development is delayed, and intellectual disability ranges from mild to severe. About half have seizures and about half have an extra finger or toe on the pinky side.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large brain and head size
- Extra brain folds (polymicrogyria)
- Fluid buildup in the brain (hydrocephalus)
- Seizures
- Extra little finger (postaxial polydactyly)
- Wide-set eyes and high forehead
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.
- 4Connect with expert centers
PMG Awareness Organization may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: PMG Awareness Organization
- 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 PMG Awareness Organization
- 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 (also called variants) cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: meg-pmg-megacc syndrome; megalencephaly-polymicrogyria- polydactyly- hydrocephalus (mpph) syndrome; megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome; mpph (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome; mpph syndrome
Patient organizations
- PMG Awareness OrganizationMegalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome.
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