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.
Prevalence
The prevalence of MEOX1-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
MEOX1-related disorder is inherited in an autosomal recessive manner.