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Cri-du-chat syndrome
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Cri-du-chat syndrome

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Contributors: Bo Hoon Lee MD, Jamie Adams MD, Richard L. Barbano MD, PhD
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Synopsis

Cri-du-chat syndrome : Failure to thrive, Hypertelorism, Hypotonia, Microcephaly, Micrognathia, Nasal bridge wide, Developmental delay, High-pitched cry
Cri-du-chat (cat's cry) syndrome results from partial deletion of the short arm of chromosome 5 (also called 5p deletion syndrome, 5p– syndrome, and monosomy 5p syndrome). One of the most characteristic features is a high-pitched cat-like cry from which the syndrome gets its name. Facial dysmorphisms include hypertelorism, epicanthal folds, flat nasal bridge, low-set ears, and rounded face. Microcephaly, hypotonia, and severe developmental delay and intellectual disability are seen. Self-injurious behaviors are common and tend to be most problematic in childhood. Less frequently seen features include cardiac and renal abnormalities, hypospadias, and cryptorchidism. Incidence is 1 in 50 000 births.

Codes

ICD10CM:
Q93.4 – Deletion of short arm of chromosome 5

SNOMEDCT:
70173007 – 5p partial monosomy syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Down syndrome (trisomy 21) – often can be easily distinguished by the characteristic facial features and other associated congenital abnormalities
  • Edwards syndrome (trisomy 18)
  • Patau syndrome (trisomy 13)
  • Other aneuploidies
  • Wolf-Hirschhorn syndrome
  • Angelman syndrome
  • Rett syndrome
  • Williams syndrome
  • Other chromosomal microdeletion / microduplication syndrome
  • Ring chromosome syndromes

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:08/13/2018
Last Updated:10/19/2022
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Cri-du-chat syndrome
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A medical illustration showing key findings of Cri-du-chat syndrome : Failure to thrive, Hypertelorism, Hypotonia, Microcephaly, Micrognathia, Nasal bridge wide, Developmental delay, High-pitched cry
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