Joubert syndrome

Description

Joubert syndrome is a genetic midbrain-hindbrain malformation syndrome characterised by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Index terms

Joubert syndrome
Joubert’s syndrome

Exclusions from above levels

LD2F.13 – Meckel syndrome
http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD20.01 – Pontocerebellar hypoplasia
LD20.0Y – Other specified syndromes with cerebellar anomalies as a major feature
LD20.0Z – Syndromes with cerebellar anomalies as a major feature, unspecified

Foundation entity

Joubert syndrome – http://id.who.int/icd/entity/1414756318

Part of: LD20.0: Syndromes with cerebellar anomalies as a major feature › LD20: Syndromes with central nervous system anomalies as a major feature › 20: Developmental anomalies