Cri Du Chat Syndrome synonyms

Cri du Chat syndrome, also known as 5p- syndrome, is a rare chromosomal condition primarily characterized by a high-pitched, cat-like cry in infancy caused by a deletion on the short arm of chromosome 5. While the name Cri du Chat syndrome remains the most widely recognized clinical term, it is frequently referred to in medical literature by its cytogenetic designation, 5p- (five-p-minus) syndrome, to reflect the underlying genetic mechanism.

What are the historical and alternative names for Cri du Chat syndrome?

The condition was first described in 1963 by French geneticist Jérôme Lejeune, who coined the term cri du chat, which is French for "cry of the cat." This name was chosen because the distinctive, high-pitched cry of affected infants sounds remarkably similar to a cat's mewing. Over the decades, as clinical understanding evolved, researchers began using the term Cri du Chat syndrome alongside more technical descriptors. You may encounter older literature referring to it as "Lejeune syndrome," named after its discoverer, though this usage has largely fallen out of favor in modern clinical practice.

How is the condition classified in medical databases?

Medical professionals and researchers rely on standardized classification systems to ensure consistency in diagnosis and research. In the Online Mendelian Inheritance in Man (OMIM) database, Cri du Chat syndrome is indexed as #123450. In the Orphanet portal, the condition is cataloged under the identifier ORPHA:201. Because the condition is defined by a partial deletion of the short arm of chromosome 5, the most common clinical abbreviation used in genetic reports and electronic health records is 5p- syndrome. Understanding these various labels is essential for patients and families, as medical records may use either the descriptive name or the cytogenetic abbreviation interchangeably.

Why are there multiple names for this condition?

The existence of multiple names for Cri du Chat syndrome reflects the transition from clinical observation to molecular genetic diagnosis. Historically, syndromes were often named after the physician who first identified them or the most striking physical feature present at birth. As we gained the ability to map the human genome, the nomenclature shifted toward defining diseases by their specific genetic cause. Today, Cri du Chat syndrome is the preferred term in patient advocacy and clinical settings because it is descriptive and widely recognized, while "5p- syndrome" remains the standard shorthand for geneticists and laboratory medicine.

Common terminology and identifiers summary

• Primary Name: Cri du Chat syndrome (French for "cry of the cat").


• Cytogenetic Name: 5p- syndrome (indicating a deletion on the short arm of chromosome 5).


• Historical Eponym: Lejeune syndrome (rarely used in modern practice).


• ICD-10/11: Classified under chromosomal abnormalities (ICD-10 Q93.4).


• OMIM ID: #123450.

Next steps

• Consult a clinical geneticist to review specific chromosomal microarray results if you have received a 5p- diagnosis.


• Connect with the 104 members of the Cri du Chat syndrome community on DiseaseMaps.org to share experiences and learn about regional support resources.


• Request a referral to a multidisciplinary team, including speech, physical, and occupational therapists, who are familiar with the unique developmental trajectory of children with this condition.


• Visit the 5p- Society website for up-to-date information on clinical trials and family support networks.

Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of a physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Cri du chat syndrome.


• Orphanet: 5p- syndrome (ORPHA:201).


• Online Mendelian Inheritance in Man (OMIM): #123450, Cri-du-chat syndrome.


• The 5p- Society: Information and support for families affected by Cri du Chat syndrome.