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3M syndrome

Disease definition

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

ORPHA:2616

  • Synonym(s):
    • 3-M syndrome
    • Dolichospondylic dysplasia
    • Gloomy face syndrome
    • Le Merrer syndrome
    • Yakut short stature syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.1
  • OMIM: 273750  612921  614205
  • UMLS: C1848862  C1851996
  • MeSH: -
  • GARD: 5667
  • MedDRA: -

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