Klippel-Feil syndrome 2, autosomal recessive

Klippel-Feil syndrome 2, autosomal recessive is a type of isolated Klippel-Feil syndrome that is caused by a mutation in the MEOX1 gene. This condition involves abnormal development of the cervical vertebrae, which can lead to fusion of the bones in the neck. People with this condition have a defect that is clearly linked to a change in a specific gene. The condition is described as autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to show signs of the syndrome.

Information about symptoms is currently limited for this condition.

The cause of this condition is a mutation in the MEOX1 gene. This gene mutation disrupts normal development of the neck vertebrae. In autosomal recessive conditions like this, two copies of the mutated gene are needed for the disorder to be present.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.