Orphanet: Alazami syndrome

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Alazami syndrome

Disease definition

A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).


Classification level: Disorder
  • Synonym(s):
    • Microcephalic primordial dwarfism, Alazami type
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.1
  • OMIM: 615071
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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