Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: MPPH syndrome

A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly megalencephaly bilateral perisylvian polymicrogyria variable degrees of ventriculomegaly/hydrocephalus developmental delay and intellectual disability oromotor dysfunction hypotonia seizures and dysmorphic facial features (such as frontal bossing low-set ears a flat nasal bridge and high-arched palate). Postaxial polydactyly of one or more extremities is also common.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

Newly diagnosed with
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

National Organization for Disorders of the Corpus Callosum

The NODCC has become the leading organization for disorders of the corpus callosum seeking to raise the profile, understanding and acceptance of these disorders through education, networking, advocacy, and being a catalyst for research.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.