Klippel-Feil syndrome 3, autosomal dominant

Klippel-Feil syndrome 3, autosomal dominant is defined as any isolated Klippel-Feil syndrome in which a mutation in the GDF3 gene causes the condition. This disease is part of a group of conditions that affect the development of the bones in the neck, and it is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene may be enough to cause the condition. The term "isolated" indicates that the syndrome in this form occurs without the presence of other syndromic features. Although variations in symptoms may occur among people with this condition, the defining characteristic is the abnormal development of the cervical vertebrae due to the mutation in the GDF3 gene.

Information about symptoms is currently limited for this condition.

This condition is caused by a mutation in the GDF3 gene. The mutation affects the normal development of bones in the neck, leading to the structural changes seen in Klippel-Feil syndrome 3, autosomal dominant. It is inherited in an autosomal dominant pattern, meaning that having one copy of the mutated gene is sufficient to cause the condition.

Information about treatment options and management approaches is currently limited for this condition.

Information about the outlook and quality of life considerations for this condition is currently limited.

Information about current research and future directions for Klippel-Feil syndrome 3, autosomal dominant is currently limited.