Clinical features
Mutations in the MEOX1 gene cause an autosomal recessive form of Klippel-Feil syndrome (KFS), a segmentation defect of the cervical spine that manifests clinically as a short neck with painless restriction in mobility and a low posterior hairline. A variable degree of cervical vertebral fusion, often associated with additional skeletal defects such as Sprengel’s deformity of the scapula and the omovertebral bone, characterizes KFS radiologically.

The prevalence of MEOX1-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.

MEOX1-related disorder is inherited in an autosomal recessive manner.