Three M Syndrome 3

Alternative Names

  • 3M3
  • 3M Syndrome 3
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614205.1.1Saudi ArabiaFemaleYesYes Intrauterine growth retardation; Neonata...NM_032040.4:c.803_807delinsTHomozygousAutosomal, RecessiveAl-Dosari et al. 2012
614205.1.2Saudi ArabiaFemaleYesYes Intrauterine growth retardation; Proport...NM_032040.4:c.803_807delinsTHomozygousAutosomal, RecessiveAl-Dosari et al. 2012 Sibling of 614205.1....
614205.1.3Saudi ArabiaMaleYesYes Proportionate short stature; Abnormal fa...NM_032040.4:c.803_807delinsTHomozygousAutosomal, RecessiveAl-Dosari et al. 2012 Sibling of 614205.1....
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