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Malan overgrowth syndrome

Disease definition

Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.


Classification level: Disorder
  • Synonym(s):
    • Sotos syndrome 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Unknown 
  • Age of onset: Infancy
  • ICD-10: Q87.3
  • OMIM: 614753
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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