Meckel Syndrome, type 9 is an extremely rare and fatal subset of MKS. Similar to other MKS subtypes, the ciliopathy is characterized by the triad of occipital encephalocele, polydactyly and renal and biliary ductal dysplasia. Other features may include an enlarged abdomen, short limbs, club feet, absent bladder and ambiguous external genitalia in males. The disorder is congenital and often results in perinatal death. MKS affects between 1/13250 to 1/140,000 live births and has a higher prevalence in populations such as Finns, Belgians, Gujrati Indians and Kuwaiti Bedouins.
Diagnosis can be made antenatally by ultrasound examination and genetic analysis can be carried out by chorionic villus sampling. Treatment is mainly symptomatic and supportive as there is currently no cure for MKS. Affected families may also benefit from genetic counselling.