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Familial Alobar Holoprosencephaly - Medical Condition Information

Familial Alobar Holoprosencephaly

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📋Overview

Familial Alobar Holoprosencephaly refers to a severe form of holoprosencephaly, a congenital brain malformation characterized by incomplete division of the forebrain (prosencephalon) into two hemispheres. The term 'familial' indicates a hereditary pattern, often involving genetic mutations affecting early brain development. Alobar holoprosencephaly is the most severe subtype, with a single brain ventricle and fused cerebral hemispheres. Modern terminology focuses on holoprosencephaly with specification of severity rather than the legacy term alone.

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Medical codes (for reference)

UMLS CUI: C0079541
ICD-10-CM
Q04.2
MeSH
D016142
SNOMED CT (US)
30915001

Codes are provided for reference and interoperability. They are not a diagnosis.

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