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Monosomy 5p

Disease definition

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

ORPHA:281

  • Synonym(s):
    • Cri du chat syndrome
    • Deletion 5p
  • Prevalence: 1-9 / 100 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q93.4
  • OMIM: 123450
  • UMLS: C0010314  C2931860
  • MeSH: C538482  D003410
  • GARD: 6213
  • MedDRA: 10011385

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