Three M Syndrome 1

Alternative Names

  • 3M1
  • 3M Syndrome
  • Le Merrer Syndrome
  • Dolichospondylic Dysplasia
  • Gloomy Face Syndrome

Associated Genes

Cullin 7
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

273750

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6p21.1

Description

3M syndrome is a rare autosomal recessive disorder that combines intrauterine growth retardation (IUGR) and postnatal growth retardation. Additionally, this syndrome is characterized by dysmorphic facial features (large head, dolichocephaly, frontal bossing, a triangular face, long philtrum and hypoplastic midface) and certain radiological abnormalities. The latter include slender long bones and ribs, foreshortened vertebral bodies, and small pelvis. The name of this disorder comes from the initials of the three researchers (Miller, McKusik, and Malvaux) who first identified it.

The characteristic radiologic findings of 3M syndrome are used to rule out similar disorders such as Silver-Russel syndrome (SRS), particularly the lack of limb length asymmetry that is present in over half of those with autosomal recessive SRS. The severity of symptoms and physical features varies considerably from case to case.

Mutations leading to 3M syndrome were mapped to the CUL7 gene. CUL7  is involved in chondrocyte growth and proliferation; therefore, CUL7  mutations can lead to reduced cell mitosis during the early gestation period and consequently retarded growth.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
273750.1.1JordanFemaleYesYes Intrauterine growth retardation; Short ...NM_001168370.2:c.203G>AHomozygousAutosomal, RecessiveAkawi et al. 2011
273750.1.2JordanMaleYesYes Short stature; Macrocephaly; Abnormal ...NM_001168370.2:c.203G>AHomozygousAutosomal, RecessiveAkawi et al. 2011 Sibling of 273750.1....
273750.1.3JordanMaleYesYes Short stature; Macrocephaly; Abnormal ...NM_001168370.2:c.203G>AHomozygousAutosomal, RecessiveAkawi et al. 2011 Sibling of 273750.1....
273750.1.4JordanFemaleYesYes Intrauterine growth retardation; Short ...NM_001168370.2:c.203G>AHomozygousAutosomal, RecessiveAkawi et al. 2011 Paternal first cousi...
273750.2.1United Arab EmiratesMaleYesYes Short stature; Small for gestational age...NM_001168370.2:c.263delHomozygousAutosomal, RecessiveDeeb et al. 2015 The patient also had...
273750.2.2United Arab EmiratesFemaleYesYes Short stature; Small for gestational age...NM_001168370.2:c.263delHomozygousAutosomal, RecessiveDeeb et al. 2015 Sister of 273750.2.1
273750.3.1Saudi ArabiaFemaleYesYes Cutis laxa; Joint laxity; Global develop...NM_014780.5:c.1144C>THomozygousAutosomal, RecessiveAl-Dosari et al. 2012; Maddirevula et al. 2018
273750.3.2Saudi ArabiaMaleYesYes Cutis laxa; Joint laxity; Global develop...NM_014780.5:c.1144C>THomozygousAutosomal, RecessiveAl-Dosari et al. 2012; Maddirevula et al. 2018 Relative of 273750.3...
273750.4.1Saudi ArabiaFemaleYesYes Joint laxity; Neonatal respiratory distr...NM_014780.5:c.2863-1G>CHomozygousAutosomal, RecessiveAl-Dosari et al. 2012; Maddirevula et al. 2018
273750.4.2Saudi ArabiaFemaleYesYes Joint laxity; Abnormal facial shape; Sev...NM_014780.5:c.2863-1G>CHomozygousAutosomal, RecessiveAl-Dosari et al. 2012; Maddirevula et al. 2018 Sibling of 273750.4....
273750.4.3Saudi ArabiaFemaleYesYes Abnormal facial shape; Severe postnatal ...NM_014780.5:c.2863-1G>CHomozygousAutosomal, RecessiveAl-Dosari et al. 2012; Maddirevula et al. 2018 Cousin of 273750.4.1
273750.4.4Saudi ArabiaFemaleYesYes Abnormal facial shape; Severe postnatal ...NM_014780.5:c.2863-1G>CHomozygousAutosomal, RecessiveAl-Dosari et al. 2012; Maddirevula et al. 2018 Sibling of 273750.4....
273750.5.1Saudi ArabiaMaleYesYes Severe short stature; Feeding difficulti...NM_014780.5:c.2988G>AHomozygousAutosomal, RecessiveAl-Dosari et al. 2012; Maddirevula et al. 2018
273750.5.2Saudi ArabiaMaleYesYes Severe short stature; Feeding difficulti...NM_014780.5:c.2988G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Relative of 273750.5...
273750.6Saudi ArabiaFemaleYes Short stature; Abnormal heart morphology...NM_014780.5:c.263delHomozygousAutosomal, RecessiveMaddirevula et al. 2018
273750.7Saudi ArabiaFemaleNo Short stature; Abnormal facial shape; Fa...NM_014780.5:c.2863-1G>CHomozygousAutosomal, RecessiveMaddirevula et al. 2018
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