3-M Syndrome - Treatment

Treatment

In most cases, 3-M syndrome is diagnosed shortly after birth, based upon a thorough clinical evaluation, identification of characteristic physical findings (e.g., low birth weight, short stature, characteristic craniofacial and skeletal malformations, etc.), and/or a variety of specialized tests, such as advanced imaging techniques. Specialized x-ray studies may detect, confirm, and/or characterize certain craniofacial malformations (e.g., dolicocephaly, maxillary hypoplasia) as well as other skeletal abnormalities often associated with the disorder such as distinctive malformations of the vertebrae, the long bones, the ribs, and/or the shoulder blades. Identification of the gene that causes 3-M syndrome may eventually lead to molecular genetic testing to confirm a suspected diagnosis. The treatment of 3-M syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, physicians who specialize in treating skeletal disorders (orthopedists), dental specialists, and/or other health care professionals may need to systematically and comprehensively plan an affected child's treatment. In some cases, orthopedic techniques, surgery, and/or other supportive techniques may be used to help treat certain skeletal abnormalities associated with 3-M syndrome. Surgery and/or supportive measures may also be used to help treat or correct certain craniofacial, digital, and/or other abnormalities associated with the disorder. In addition, in affected individuals with dental abnormalities, braces, oral surgery, and/or other corrective techniques may be used to help treat or correct such malformations. Genetic counseling will be of benefit for affected individuals and their families. Family members of affected individuals should also receive regular clinical evaluations to detect any symptoms and physical characteristics that may be potentially associated with 3-M syndrome or heterozygosity for the disorder. Other treatment for 3-M syndrome is symptomatic and supportive.