CILK1 and short rib-polydactyly syndrome: In humans, homozygous loss-of-function mutations in the ICK gene cause endocrine-cerebro-osteodysplasia syndrome, an autosomal recessive ciliopathy showing neonatal lethality with various developmental defects involving the endocrine, cerebral, and skeletal systems, and short rib-polydactyly syndrome, an autosomal recessive ciliopathy characterized by perinatal lethality with short ribs, shortened and hypoplastic long bones, polydactyly, and multiorgan system abnormalities (46, 47, 48).