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3M syndrome

Disease definition

A rare primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, large head size, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

ORPHA:2616

Classification level: Disorder
  • Synonym(s):
    • 3-M syndrome
    • Yakut short stature syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal
  • ICD-10: Q87.1
  • OMIM: 273750  612921  614205
  • UMLS: C1848862  C1851996  C2678312
  • MeSH: -
  • GARD: 5667
  • MedDRA: -

Detailed information

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