Families

GDF6is a gene that provides instructions for making a protein called growth differentiation factor 6. Changes in this gene can be linked to Klippel-Feil syndrome type 1, multiple synostoses syndrome, Leber congenital amaurosis, and microphthalmia. Klippel-Feil syndrome is a rare birth condition in which the vertebrae in the neck (cervical spine bones) are fused together. It can present very differently from one patient to another, and some patients also have other non-bone anomalies. It is usually inherited in an autosomal dominant way, which means that one changed copy of the gene can be enough to cause the condition.

Recently, congenital anomalies of the kidney and urinary tract (CAKUT), such as kidney hypodysplasia (i.e. small kidneys with structural anomalies), have also been linked to GDF6in patients often additionally manifesting bone, eye, or ear anomalies.