Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Engelsk navn: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Engelske synonym: MPPH syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 83473
Klassifiseringsnivå: Disorder
ICD-10: Q04.8
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
