Nager Syndrome is a rare disease that affects face, hands and arms. This disease have described in year 1948 by Doctor Nager and his colleague Doctor Reynier. The malformations causes because of the first and second branchial arches and limb buds development disorder. This syndrome is the most common acrofacial malformation syndrome also.
Most cases, developed with fresh mutations. With it, autosomal dominant and autosomal recessive forms have reported also. Nager syndrome incidence is 1-2 of 1,000,000 newborns. The genetic defect is most common by %60 rate on SF3B4 gene that is localised in 1’th chromosome. But in some cases this defective gene does not exist. In some patients the genetic defects may not identified also.
Oral language stimulation should be trained from infancy. Nutritional training may required also. To the patients that not need feeding tubes, maximum sucking and chewing experience training may helpful. The parents that have feeding tubes patients, must trained to have tube feed experience. For hearing problem, bone conduction devices may helpful in selected cases. Because most children with Nager syndrome have normal cognitive abilities. For this reason, it have importance that their skills will highlighted. Psychiatric findings like depression can seen in these patients at later ages. For this reason, psychiatric support is important in the presence of a psychologist if necessary.
After nutrition and breathing problems corrected in infancy, most patients are healthy and they will have a normal lifespan.