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3M syndrome 2(3M2)

MedGen UID:
414168
Concept ID:
C2752041
Disease or Syndrome
Synonyms: 3-M Syndrome, OBSL1-Related; THREE M SYNDROME 2
 
OBSL1 (2q35)
 
Monarch Initiative: MONDO:0013039
OMIM®: 612921
Authors:

Additional description

From OMIM
3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips (Hanson et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (273750).  http://www.omim.org/entry/612921

Clinical features

From HPO

Term Hierarchy

Professional guidelines

PubMed

Karacan Küçükali G, Keskin M, Aycan Z, Savaş-Erdeve Ş, Çetinkaya S
Eur J Med Genet 2023 Oct;66(10):104828. Epub 2023 Sep 4 doi: 10.1016/j.ejmg.2023.104828. PMID: 37673300
Wit JM, Joustra SD, Losekoot M, van Duyvenvoorde HA, de Bruin C
Horm Res Paediatr 2021;94(3-4):81-104. Epub 2021 Jun 4 doi: 10.1159/000516407. PMID: 34091447
Simsek-Kiper PO, Taskiran E, Kosukcu C, Arslan UE, Cormier-Daire V, Gonc N, Ozon A, Alikasifoglu A, Kandemir N, Utine GE, Alanay Y, Alikasifoglu M, Boduroglu K
Am J Med Genet A 2019 Jul;179(7):1157-1172. Epub 2019 Apr 13 doi: 10.1002/ajmg.a.61154. PMID: 30980518

Recent clinical studies

Clinical prediction guides

Woolley SA, Hayes SE, Shariflou MR, Nicholas FW, Willet CE, O'Rourke BA, Tammen I
BMC Genet 2020 Sep 15;21(1):106. doi: 10.1186/s12863-020-00913-8. PMID: 32933480Free PMC Article

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