Klippel-Feil syndrome 1, autosomal dominant

Klippel-Feil syndrome 1, autosomal dominant is a rare condition that occurs because of a mutation in the GDF6 gene. This condition is described as an isolated form of Klippel-Feil syndrome, meaning that it generally affects only a specific part of the spine. In people with this condition, the upper (cervical) vertebrae may be fused, which means that two or more bones in the neck are joined together. This fusion can potentially affect movement and the appearance of the neck. The term 'isolated' indicates that the fusion and other changes occur without the presence of other significant abnormalities. The condition is inherited in an autosomal dominant manner, which means that a mutation in one copy of the gene is enough to cause the condition. Key identifiers for this condition include its listing under OMIM number 118100 and GARD number 15049.

Information about symptoms is currently limited for this condition.

Klippel-Feil syndrome 1 is caused by a mutation in the GDF6 gene. This change in the gene affects the way bones develop in the neck, leading to the characteristic cervical vertebral fusion. The mutation follows an autosomal dominant inheritance pattern, which means that a mutation in one copy of the gene can be enough to cause the condition.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.