Joubert syndrome and related disorders
Joubert syndrome and related disorders
GARD:19931
MONDO:0015369
Orphanet:140874
UMLS:CN199461
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
JSRD
autosomal recessive congenital cerebellar ataxia