Cri-du-chat syndrome
Última actualización 25 Oct 2022
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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. The disorder is characterised 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.
Descripción
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. The disorder is characterised 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.
Patrones de herencia
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Otros nombres
5p deletion syndrome
5p- syndrome
Cat cry syndrome
Chromosome 5p- syndrome
Monosomy 5p
Related patient information and medicines
Patient information leaflet
Síndrome de Cri du Chat
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. El syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of abnorma....
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Lecturas adicionales y referencias
- Cri-du-chat syndrome; MedlinePlus, National Library of Medicine.
- Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. 2006 Sep 5;1:33. doi: 10.1186/1750-1172-1-33.
- Hills C, Moller JH, Finkelstein M, Lohr J, Schimmenti L. Cri du chat syndrome and congenital heart disease: a review of previously reported cases and presentation of an additional 21 cases from the Pediatric Cardiac Care Consortium. Pediatrics. 2006 May;117(5):e924-7. doi: 10.1542/peds.2005-1012. Epub 2006 Apr 3.
- 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 report from the Italian Register. Eur J Med Genet. 2006 Sep-Oct;49(5):363-83. doi: 10.1016/j.ejmg.2005.12.004. Epub 2006 Jan 13.
- Mainardi PC, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, Zara F, Overhauser J, Pierluigi M, Bricarelli FD. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. 2001 Mar;38(3):151-8. doi: 10.1136/jmg.38.3.151.
- Rodriguez-Caballero A, Torres-Lagares D, Rodriguez-Perez A, Serrera-Figallo MA, Hernandez-Guisado JM, Machuca-Portillo G. Cri du chat syndrome: a critical review. Med Oral Patol Oral Cir Bucal. 2010 May 1;15(3):e473-8. doi: 10.4317/medoral.15.e473.
- Sigafoos J, O'Reilly MF, Lancioni GE. Cri-du-chat. Dev Neurorehabil. 2009 Jun;12(3):119-21. doi: 10.1080/17518420902975720. No abstract available.
- 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 by quantitative PCR. Eur J Hum Genet. 2005 Apr;13(4):475-85. doi: 10.1038/sj.ejhg.5201345.
- Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, Yang H, Gray J, Niebuhr E, Bolund L, Pinkel D. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet. 2005 Feb;76(2):312-26. doi: 10.1086/427762. Epub 2005 Jan 4.
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