3-M syndrome

3-M syndrome
SpecialtyMedical genetics Edit this on Wikidata

3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities.[1] The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972.[2] Mutations in any one of the following three genes: CUL7, OBSL1, and CCDC8 are responsible for the occurrence of this disorder.[2] It is inherited through an autosomal recessive pattern[2] and considered very rare, so far less than 100 cases worldwide have been identified.[3] Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved. Treatment is aimed at addressing the growth and skeletal problems and may include surgical bone lengthening, adaptive aids, and physical therapy. An endocrinologist may assist with growth hormone replacement and appropriate evaluations during puberty.[4][5]

  1. ^ Erickson, Robert P; Wynshaw-Boris, Anthony Joseph, eds. (2016). "3M Syndrome". Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3rd ed.). doi:10.1093/med/9780199934522.001.0001. ISBN 9780199934522 – via Oxford Medicine Online.
  2. ^ a b c "3-M syndrome". Medline Plus. December 12, 2017.
  3. ^ Holder-Espinasse, Muriel; Irving, Melita; Cormier-Daire, Valérie (March 2, 2011). "Clinical utility gene card for: 3M syndrome". European Journal of Human Genetics. 19 (9): 1017. doi:10.1038/ejhg.2011.32. PMC 3179355. PMID 21364696.
  4. ^ Cite error: The named reference :2 was invoked but never defined (see the help page).
  5. ^ Irving, Melita; Holder-Espinasse, Muriel (March 25, 2002) [Updated February 7, 2019]. "Three M Syndrome". In Adam, Margaret P.; et al. (eds.). GeneReviews®. University of Washington, Seattle. PMID 20301654. Retrieved November 5, 2019.