Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Name: |
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
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Description: |
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.
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ORPHAcode: |
83473
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Synonyms: |
MPPH syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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