Isolated encephalocele

Orpha code: 199647OMIM code:

Definition

A rare, neural tube closure defect characterized by partial lacking of bone fusion, resulting in sac-like protrusions of the brain and the membranes that cover it through the openings in the skull. Protruding tissue may be located on any part of the head, but most often affects the occipital area. Depending in the size and location, encephalocele are often associated with neurological problems including intellectual disability, seizures, vision impairment, ataxia, and hydrocephalus.

Disease data
Classification

Morphological anomaly

ORPHA code
199647
OMIM code
-
ICD10 code
Q01.9
ICD11 code
LA01

No additional description.

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