Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy characterized by a distinctive mid-hindbrain malformation known as the “molar tooth sign” (MTS), which is considered mandatory for diagnosis. CEP120-related JS is autosomal recessively inherited. The only epidemiological study on JS prevalence in Italy disclosed an overall prevalence of about 0.5:100,000 individuals, raising to 1.7:100,000 when considering patients in the age range 0 to 19 years.
Jeune asphyxiating thoracic dystrophy (JATD) is a genetically heterogeneous skeletal dysplasia affecting 1:100 000-130,000 live births and presenting with a small thoracic cage and a range of skeletal and extra-skeletal anomalies. CEP120-related JATD is autosomal recessively inherited. Complex ciliopathies may manifest with variable combinations of features that are typical of ciliopathies, such as malformations of the central nervous system (cerebellar vermis hypoplasia, molar tooth sign, occipital encephalocele, etc.), retinal dystrophy, cystic kidneys, congenital liver fibrosis, polydactyly and other skeletal abnormalities, and oral-facial defects.