Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

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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 http://www.orphadata.org. Data version June 2024

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Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?

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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.

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Clinical Trials

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