Agent Commons Collaborative Research
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
rareMegalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.
- Identifiers
- MONDO:0019375 Orphanet:83473
- Part of
- PIK3CA-related overgrowth spectrumHereditary neurological diseaseHydrocephalusNon-syndromic polydactylyOvergrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- Also known as
- megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus · megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome · megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome · MPPH syndrome
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