Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome?
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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.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.