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Monosomy 5p

ORPHA281
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
UMLS
  • C0010314
  • C2931860
MeSH
  • C538482
  • D003410
MedDRA
  • 10011385

Summary

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.

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