Medication Summary

See the list below:

Currently, drug therapy is not a component in the standard of care for cri-du-chat syndrome. See Treatment.

Follow-up

LeJeune J. [Role of cytogenetics in the study of neoplastic processes]. Rev Prat. 1963 Dec 9. 13:SUPPL 21-3. [QxMD MEDLINE Link].
Ajitkumar A, Jamil RT, Mathai JK. Cri Du Chat Syndrome. StatPearls. 2020 Jan. [QxMD MEDLINE Link]. [Full Text].
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. 15(3):e473-8. [QxMD MEDLINE Link].
Liverani ME, Spano A, Danesino C, et al. Children and adults affected by Cri du Chat syndrome: Care's recommendations. Pediatr Rep. 2019 Feb 26. 11 (1):7839. [QxMD MEDLINE Link].
Mainardi PC, Perfumo C, Calì A, et al. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. 2001 Mar. 38(3):151-8. [QxMD MEDLINE Link]. [Full Text].
Overhauser J, Huang X, Gersh M, et al. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet. 1994 Feb. 3(2):247-52. [QxMD MEDLINE Link].
Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet. 1995 Jun. 56(6):1404-10. [QxMD MEDLINE Link]. [Full Text].
Goodart SA, Simmons AD, Grady D, et al. A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. Genomics. 1994 Nov 1. 24(1):63-8. [QxMD MEDLINE Link].
Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E. Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J Hum Genet. 1995 May. 56(5):1162-72. [QxMD MEDLINE Link]. [Full Text].
Sanders CD, Leigh MW, Chao KC, et al. The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort. Pediatr Pulmonol. 2018 Nov. 53 (11):1565-73. [QxMD MEDLINE Link].
Lefranc V, de Luca A, Hankard R. Protein-energy malnutrition is frequent and precocious in children with cri du chat syndrome. Am J Med Genet A. 2016 May. 170A (5):1358-62. [QxMD MEDLINE Link].
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Swanepoel D. Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy. Clin Genet. 2007 Oct. 72(4):369-73. [QxMD MEDLINE Link].
Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978 Nov 16. 44(3):227-75. [QxMD MEDLINE Link].
Correa T, Feltes BC, Riegel M. Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome. Genet Mol Biol. 2019 Apr 11. [QxMD MEDLINE Link]. [Full Text].
Robinson WP, Dutly F, Nicholls RD, et al. The mechanisms involved in formation of deletions and duplications of 15q11-q13. J Med Genet. 1998 Feb. 35(2):130-6. [QxMD MEDLINE Link]. [Full Text].
Perfumo C, Cerruti Mainardi P, Calí A, et al. The first three mosaic cri du chat syndrome patients with two rearranged cell lines. J Med Genet. 2000 Dec. 37(12):967-72. [QxMD MEDLINE Link]. [Full Text].
Ye Y, Luo Y, Qian Y, Xu C, Jin F. Cri du chat syndrome after preimplantation genetic diagnosis for reciprocal translocation. Fertil Steril. 2011 Jul. 96(1):e71-5. [QxMD MEDLINE Link].
Wapner RJ, Babiarz JE, Levy B, et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol. 2015 Mar. 212(3):332.e1-9. [QxMD MEDLINE Link].
Uzunhan TA, Sayinbatur B, Calıskan M, Sahin A, Aydın K. A clue in the diagnosis of cri-du-chat syndrome: pontine hypoplasia. Ann Indian Acad Neurol. 2014 Apr. 17 (2):209-10. [QxMD MEDLINE Link]. [Full Text].
Villa R, Fergnani VGC, Silipigni R, et al. Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations. Eur J Paediatr Neurol. 2020 Sep. 28:110-9. [QxMD MEDLINE Link].
Pizzamiglio MR, Nasti M, Piccardi L, Vitturini C, Morelli D, Guariglia C. Visual-motor coordination computerized training improves the visuo-spatial performance in a child affected by Cri-du-Chat syndrome. Int J Rehabil Res. 2008 Jun. 31(2):151-4. [QxMD MEDLINE Link].
Guala A, Spunton M, Tognon F, et al. Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods. ScientificWorldJournal. 2016. 2016:3125283. [QxMD MEDLINE Link]. [Full Text].

Media Gallery

Infant with cri-du-chat syndrome. Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears.
Child with cri-du-chat syndrome. Note the hypertonicity, small and narrow face, dropped jaw, and open-mouth expression secondary to facial laxity.
Fluorescent in situ hybridization (FISH) study of a patient with cri-du-chat syndrome. FISH photograph shows deletion of a locus-specific probe for the cri-du-chat region. Spectrum orange color represents chromosome 5–specific signal and spectrum green is cri-du-chat locus signal. Absence of a green signal indicates monosomy for that region (left, interphase cell; right, metaphase chromosome spread).
G-banded karyotype [46,XX,del(5)(p13)].
G-banded karyotype of a carrier father [46,XY,t(5;17)(p13.3;p13)].

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Author

Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK) Consultant Neonatologist, Clinical Director for Neonatal Services, Associate Medical Director (Revalidation), The James Cook University Hospital, South Tees Foundation NHS Trust; UK Chair, Theory MRCPCH Exams, Senior Clinical MRCPCH Examiner, Royal College of Pediatrics and Child Health (UK)

Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK) is a member of the following medical societies: American Pediatric Society, Society for Pediatric Research, British Association of Perinatal Medicine, British Medical Association, Neonatal Society, Nepal Medical Association, Royal College of Paediatrics and Child Health, Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Sections Cri-du-chat Syndrome
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