Joubert syndrome and related disorders
ORPHA:140874
Definition
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.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal