Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Chiari type II malformation
Synonyms

Arnold-Chiari type II malformation

Definitions

A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele. While Chiari I malformation is thought to result from a small posterior fossa, Chiari II occurs due to in utero malformation of the spine and cranial structures. The underlying cause of Chiari II malformation is thought to be an in utero CSF leak due to open spinal dysraphism, resulting in a small posterior fossa with distortion of the cerebellum and a diminutive cisterna magna, sometimes accompanied by ventriculomegaly and an altered shape of the calvarium. Chiari II malformation is always associated with spinal myelomeningocele or myelocele. Classical signs described on prenatal ultrasound include lemon sign and banana cerebellum sign.

ID

http://purl.obolibrary.org/obo/HP_0025660

comment

While Chiari I malformation is thought to result from a small posterior fossa, Chiari II occurs due to in utero malformation of the spine and cranial structures. The underlying cause of Chiari II malformation is thought to be an in utero CSF leak due to open spinal dysraphism, resulting in a small posterior fossa with distortion of the cerebellum and a diminutive cisterna magna, sometimes accompanied by ventriculomegaly and an altered shape of the calvarium. Chiari II malformation is always associated with spinal myelomeningocele or myelocele. Classical signs described on prenatal ultrasound include lemon sign and banana cerebellum sign.

creator

https://orcid.org/0000-0002-0736-9199

definition

A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele.

has exact synonym

Arnold-Chiari type II malformation

label

Chiari type II malformation

prefixIRI

HP:0025660

prefLabel

Chiari type II malformation

subClassOf

http://purl.obolibrary.org/obo/HP_0002308

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