Management of Shprintzen-Goldberg syndrome depends on the extent of the features. To delineate the phenotype a skeletal survey, brain CT-scan and/or MRI and echocardiogram are recommended. Treatments include surgical correction of craniofacial or chest problems, orthopedic devices for scoliosis and physiotherapy to increase mobility for those with joint contractures. Anyone with Shprintzen-Goldberg syndrome should be managed by a cardiologist who is familiar with the condition and genetic counseling is recommended.
SKI