Meckel’s syndrome [18 genes]

Meckel syndrome is a lethal autosomal recessive genetic disorder caused by a dysfunction of primary cilia during embryonic development. It is characterized by a classic triad of brain malformations (mainly occipital encephalocele), polycystic kidneys, and liver fibrosis, often accompanied by polydactyly and other congenital anomalies such as cleft lip/palate, cardiac and genital malformations, bone dysplasia, and pulmonary hypoplasia secondary to oligohydramnios. Affected foetuses usually die in utero or shortly after birth.

Prevalence at birth is estimated at 1:38,500 in Europe (ORPHA:564).

Genetic testing for Meckel syndrome is particularly useful to confirm pre- or postnatal genetic diagnosis in the presence of compatible malformations, distinguishing it from other ciliopathic syndromes with overlapping syndromes, and providing accurate genetic counseling to the families.

Service indicated upon suspicion of the disease.