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Monosomy 5p

Disease definition

A rare developmental defect during embryogenesis, resulting from partial or total deletion of the short arm of chromosome 5, classically characterized by a high-pitched, monotone, cat-like cry (cri du chat) present since birth, associated with varying degrees of intellectual disability, developmental delay, microcephaly, and facial dysmorphism.


Classification level: Disorder
  • Synonym(s):
    • Cri du chat syndrome
    • Deletion 5p
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Antenatal
  • ICD-10: Q93.4
  • ICD-11: LD44.51
  • OMIM: 123450
  • UMLS: C0010314
  • MeSH: D003410
  • GARD: 6213
  • MedDRA: 10011385

Detailed information

General public


Disease review articles

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