Joubert syndrome and related disorders(English)

• a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign, a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence range between 1/80,000 and 1/100,000 live births. The neurological features include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis and polydactyly, with both inter- and intra-familial variability. Classified in six phenotypic subgroups: Pure JS; JS with ocular defect; JS with renal defect; JS with oculorenal defects; JS with hepatic defect; JS with orofaciodigital defects. With the exception of rare X-linked recessive cases, JSRD follow autosomal recessive inheritance and are genetically heterogeneous. Part of an expanding group of diseases called "ciliopathies"
• JS, MTS
• Congenital disorders, Regulation / control
• https://doi.org…/1750-1172-5-20