Cri-du-chat Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome

Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat.

genetic conditions

1. Introduction

The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.

2. Frequency

Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds.

3. Causes

Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.

The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri-du-chat syndrome.

4. Inheritance

Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.

About 10 percent of people with cri-du-chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in the intellectual disability and health problems characteristic of this disorder.

5. Other Names for This Condition

5p deletion syndrome
5p- syndrome
cat cry syndrome
chromosome 5p- syndrome
monosomy 5p

References

Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. 2006 Sep5;1:33. Review.
Hills C, Moller JH, Finkelstein M, Lohr J, Schimmenti L. Cri du chat syndrome and congenital heart disease: a review of previously reported cases andpresentation of an additional 21 cases from the Pediatric Cardiac CareConsortium. Pediatrics. 2006 May;117(5):e924-7.
Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, Provera S, Pierluigi M, Bricarelli FD. The natural history of Cri du Chat Syndrome. A reportfrom the Italian Register. Eur J Med Genet. 2006 Sep-Oct;49(5):363-83.
Mainardi PC, Perfumo C, Calì A, Coucourde G, Pastore G, Cavani S, Zara F,Overhauser J, Pierluigi M, Bricarelli FD. Clinical and molecular characterisationof 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet.2001 Mar;38(3):151-8.
Rodríguez-Caballero A, Torres-Lagares D, Rodríguez-Pérez A, Serrera-FigalloMA, Hernández-Guisado JM, Machuca-Portillo G. Cri du chat syndrome: a criticalreview. Med Oral Patol Oral Cir Bucal. 2010 May 1;15(3):e473-8. Review.
Sigafoos J, O'Reilly MF, Lancioni GE. Cri-du-chat. Dev Neurorehabil. 2009Jun;12(3):119-21. doi: 10.1080/17518420902975720.
Wu Q, Niebuhr E, Yang H, Hansen L. Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes byquantitative PCR. Eur J Hum Genet. 2005 Apr;13(4):475-85.
Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, GrayJ, Niebuhr E, Bolund L, Pinkel D. High-resolution mapping of genotype-phenotyperelationships in cri du chat syndrome using array comparative genomichybridization. Am J Hum Genet. 2005 Feb;76(2):312-26.

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Subjects: Genetics & Heredity

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Nicole Yin

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

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1. Introduction

2. Frequency

3. Causes

4. Inheritance

5. Other Names for This Condition

References

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1. Introduction

2. Frequency

3. Causes

3.1. The Gene and Chromosome Associated with Cri-du-chat Syndrome

4. Inheritance

5. Other Names for This Condition

References