The diagnostic criteria for short rib-polydactyly type II (Majewski syndrome) include short and narrow thorax, horizontally oriented ribs, short tubular bones with smooth ends, ovoid tibiae that are shorter than the fibulae or tibial agenesis, and pre- and/or ... The diagnostic criteria for short rib-polydactyly type II (Majewski syndrome) include short and narrow thorax, horizontally oriented ribs, short tubular bones with smooth ends, ovoid tibiae that are shorter than the fibulae or tibial agenesis, and pre- and/or postaxial polysyndactyly (summary by El Hokayem et al., 2012). Mutation in the DYNC2H1 gene has also been implicated in SRPS III (263510). Additionally, there is evidence that short rib-polydactyly type II can be caused by digenic biallelic mutation in the NEK1 (604588) and DYNC2H1 genes.
In a proband from a nonconsanguineous family with short-rib polydactyly type II, Thiel et al. (2011) identified heterozygosity for a missense mutation in the DYNC2H1 gene (603297.0016) and heterozygosity for a missense mutation in the NEK1 gene (604588.0003). ... In a proband from a nonconsanguineous family with short-rib polydactyly type II, Thiel et al. (2011) identified heterozygosity for a missense mutation in the DYNC2H1 gene (603297.0016) and heterozygosity for a missense mutation in the NEK1 gene (604588.0003). No second mutation was found in either gene and each parent was heterozygous for one of the mutations; thus, this patient appeared to represent a digenic biallelic phenotype. El Hokayem et al. (2012) analyzed the DYNC2H1 gene in 7 unrelated cases of short-rib polydactyly type II, all of which were either terminated pregnancies or cases of neonatal death and in which mutation in the NEK1 gene (604588) had been excluded, and identified compound heterozygous DYNC2H1 mutations in 4 of the families (see, e.g., 604588.0017-604588.0020).