3-M syndrome

3-M syndrome, also written 3M3, is a rare hereditary disorder marked by severe growth retardation, facial dysmorphia and skeletal abnormalities. Its name comes from the initials of Miller, McKusick and Malvaux, the three researchers who first identified it and reported their findings in 1972. Mutations in any one of three genes, CUL7, OBSL1 and CCDC8, can cause it, and it is inherited in an autosomal recessive pattern. It is very rare, with fewer than one hundred cases identified worldwide. Diagnosis rests on the clinical features, and genetic testing can confirm it and identify the gene involved. Treatment addresses growth and skeletal problems and may include bone lengthening, adaptive aids and physical therapy. This is a record of what the source states, not medical advice.