hydrocephalus non-syndromic polydactyly megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome https://www.malacards.org/card/megalencephaly_polymicrogyria_postaxial_polydactyly_hydrocephalus_syndrome GARD:0010341 UMLS:C1863924 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome MONDO:0019375 megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus MEDGEN:355095 Orphanet:83473 SCTID:722036008 OMIMPS:603387 megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome Megalencephaly-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. MPPH syndrome overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes hereditary neurological disease PIK3CA-related overgrowth spectrum