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Holoprosencephaly
rareHoloprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.
- Identifiers
- MONDO:0016296 Orphanet:2162
- Part of
- Congenital nervous system disorderHereditary neurological diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilityNon-acquired combined pituitary hormone deficiencySyndromic disease
- Also known as
- holoprosencephaly sequence · HPE
Subtypes
Rare disease
Projects
Including projects on subtypes.
No projects yet.