Mutations in this gene have been shown to cause 3-M syndrome.

The treatment of 3-M syndrome is directed toward the specific symptoms that are apparent in each individual.

Other treatment for 3-M syndrome is symptomatic and supportive.

It is associated with 3-M syndrome.

In some cases, individuals who carry a single copy of the disease gene (heterozygotes) may exhibit mild symptoms associated with 3-M syndrome.

Identification of the gene that causes 3-M syndrome may eventually lead to molecular genetic testing to confirm a suspected diagnosis.

(Again, in the case of 3-M syndrome, some carriers may exhibit some mild symptoms associated with the disorder.)

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.

No laboratories offering molecular genetic testing for prenatal diagnosis of 3-M syndrome are listed in the GeneTests Laboratory Directory.

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.

Individuals who carry a single copy of the defective gene for 3-M syndrome (heterozygotes) may exhibit some mild physical findings associated with the disorder (e.g., subtle craniofacial abnormalities and/or unusually slender bones).

The name "3-M syndrome" refers to the last initials of three researchers (J.D. Miller, V.A. McKusick, P. Malvaux) who were among the first to identify the disorder and report their findings in the medical literature.

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.