Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism (KFS4)

Klippel-Feil Syndrome 4, Autosomal Recessive, with Nemaline Myopathy and Facial Dysmorphism, also known as klippel-feil anomaly-myopathy-facial dysmorphism syndrome, is a rare genetic disorder. It is caused by mutations in the MYO18B gene, which is associated with the development of the skeletal system. Affected individuals may have abnormalities in the bones of the neck, as well as muscle weakness and facial abnormalities. Other symptoms may include ptosis (drooping of the eyelids) and microcephaly (a smaller than normal head size).