Due to the fact that many of the abnormalities associated with this disorder are congenital, the presence of these clinical features at birth is usually sufficient to make the diagnosis. Diagnosis is suggested in children with the following: low birth weight, severe growth retardation, typical facial features, and characteristic radiological findings. In some cases, growth retardation and/or other characteristic findings suggestive of Three M syndrome may be detected before birth by ultrasound. In fetal ultrasonography, reflected sound waves are used to create an image of the developing fetus. * Radio-graphic findings can show the skeletal malformations characteristic with this disorder, however these can only be seen in the individual after the first two years of life. These usually reveal long bones that are slender, tall vertebral bodies that shorten over time, small pelvic bones, a broad thorax with slender ribs, and delayed bone age in affected individuals. Molecular genetic testing can be done on the individual to confirm the diagnosis and specify which of the genes were involved. The recommended order of testing the three genes is by the likelihood of a mutation occurring in that gene: 77.5% for CUL7, 16% for OBSL1, and the percentage is unknown for CCDC8 because it is so rare. Three common molecular methods used to test for mutations in a specific gene are a deletion/duplication analysis, targeted variant analysis, or a sequence analysis of the entire coding region.
3-M syndrome
3C syndrome
WHIM syndrome
RIDDLE syndrome
CAMFAK syndrome
HUPRA syndrome
STAR syndrome
TEMPI syndrome