Meckel Syndrome, Type 5
A number sign (#) is used with this entry because Meckel syndrome type 5 (MKS5) is caused by homozygous or compound heterozygous mutation in the RPGRIP1L gene (610937) on chromosome 16q12.
For a general description of Meckel syndrome, see MKS1 (249000).
See also Joubert syndrome-7 (JBTS7; 611560), an allelic disorder with a less severe phenotype.
Clinical FeaturesDelous et al. (2007) reported 3 fetuses with Meckel syndrome diagnosed at 15 to 16 weeks' gestation by ultrasound. Two were sibs of Moroccan origin. Ultrasound and post-termination examination showed anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and palate, microphthalmia, severe cystic kidney disease, and hepatic bile duct proliferation, and bowing of the long bones.
Molecular GeneticsIn 3 fetuses with Meckel syndrome type 5, Delous et al. (2007) identified homozygous or compound heterozygous truncating mutations in the RPGRIP1L gene (610937.0005-610937.0007) that all resulted in complete loss of protein function.