cri du chat syndrome

Summary

Summary: An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).

Top Publications

  1. Cornish K, Bramble D. Cri du chat syndrome: genotype-phenotype correlations and recommendations for clinical management. Dev Med Child Neurol. 2002;44:494-7 pubmed
  2. 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;13:475-85 pubmed
    ..The other two genes are expressed uniformly in all tissues tested, which suggest that they are housekeeping genes...
  3. Tsao C, Wenger G, Bartholomew D. Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia. Am J Med Genet A. 2005;134A:198-201 pubmed
    ..We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, ..
  4. Stefanou E, Hanna G, Foakes A, Crocker M, Fitchett M. Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly. Prenat Diagn. 2002;22:64-6 pubmed
    A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly...
  5. Weiss A, Shalev S, Weiner E, Shneor Y, Shalev E. Prenatal diagnosis of 5p deletion syndrome following abnormally low maternal serum human chorionic gonadotrophin. Prenat Diagn. 2003;23:572-4 pubmed
    ..This is the first report of its association with abnormally low levels. The association between chromosomal abnormalities and hCG is discussed...
  6. Hills C, Moller J, 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;117:e924-7 pubmed
  7. Simmons A, Overhauser J, Lovett M. Isolation of cDNAs from the Cri-du-chat critical region by direct screening of a chromosome 5-specific cDNA library. Genome Res. 1997;7:118-27 pubmed
    ..This new thrombospondin-like gene, and the other three cDNAs that map within the CDCCR, represent candidate genes for the cri-du-chat contiguous gene deletion syndrome...
  8. Medina M, Marinescu R, Overhauser J, Kosik K. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics. 2000;63:157-64 pubmed
    ..These findings and the properties of delta-catenin as a neuronal-specific protein, expressed early in development and involved in cell motility, support its role in the mental retardation of CDCS when present in only one copy...
  9. Sarimski K. Early play behaviour in children with 5p- (Cri-du-Chat) syndrome. J Intellect Disabil Res. 2003;47:113-20 pubmed
    ..While the physical symptoms have frequently been documented, the developmental and behavioural aspects of the syndrome have not been explored adequately, especially in young children...

More Information

Publications68

  1. Posmyk R, Panasiuk B, Yatsenko S, Stankiewicz P, Midro A. A natural history of a child with monosomy 5p syndrome (Cat-cry/Cri-du-chat syndrome) during the 18 years of follow-up. Genet Couns. 2005;16:17-25 pubmed
    ..However, facial asymmetry was more evident, frontal tubers were less prominent, nasal root and back became prominent nasal back became elongated, the subnasal region was shorter and marked malocclusion appeared...
  2. Collins M, Cornish K. A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome. J Intellect Disabil Res. 2002;46:133-40 pubmed
    ..and frequency of stereotypy, self-injurious behaviour (SIB), and aggression in children and adults with Cri du Chat syndrome (CCS), and to investigate the relationship between SIB, aggressive behaviour and stereotypy in these ..
  3. Kondoh T, Shimokawa O, Harada N, Doi T, Yun C, Gohda Y, et al. Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis. J Hum Genet. 2005;50:26-9 pubmed
    ..Further studies on genotype-phenotype correlation will help us better understand 5p- syndrome and also determine functional mapping of the 5p region...
  4. Choong Y, Watts P, Little E, Beck L. Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?. J AAPOS. 2003;7:226-7 pubmed
    ..full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome. At birth, the infant was noted to have dysmorphic features with bilateral preauricular tags, rotated ears, ..
  5. Collins M, Eaton Evans J. Growth study of cri du chat syndrome. Arch Dis Child. 2001;85:337-8 pubmed
    ..Most subjects had impaired growth, particularly of head circumference. The more emaciated the child the more pronounced the microcephaly, showing the need for growth and nutrition monitoring...
  6. Vialard F, Robyr R, Hillion Y, Molina Gomes D, Selva J, Ville Y. Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion. Prenat Diagn. 2005;25:311-3 pubmed
    ..Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations...
  7. Cornish K, Munir F. Receptive and expressive language skills in children with cri-du-chat syndrome. J Commun Disord. 1998;31:73-80; quiz 80-1 pubmed
    ..One implication of these findings is that remediation that focuses on receptive skills may be more effective than traditional verbal methods...
  8. Harvard C, Malenfant P, Koochek M, Creighton S, Mickelson E, Holden J, et al. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. Clin Genet. 2005;67:341-51 pubmed
    b>Cri du Chat syndrome (CdCs) is a well-defined clinical entity, with an incidence of 1/15,000 to 1/50,000. The critical region for CdCs has been mapped to 5p15, with the hallmark cat-like cry sublocalized to 5p15...
  9. Wium K, Kristoffersen K. Past tense morphology in Cri du chat syndrome: experimental evidence. Clin Linguist Phon. 2008;22:401-6 pubmed publisher
    It has been observed that persons with Cri du chat syndrome (CDCS) have poor language production...
  10. Kristoffersen K. Consonants in Cri du chat syndrome: a case study. J Commun Disord. 2008;41:179-202 pubmed
    This article reports on a longitudinal case study of consonant productions in one Norwegian girl with Cri du chat syndrome from age 4;6 to age 9;4. It was shown that she had many articulation errors throughout the period of observation...
  11. Kitsiou S, Kolialexi A, Mavrou A. Mosaic Cri du Chat syndrome in a patient exhibiting three 5p cell lines. Prenat Diagn. 2004;24:578-9 pubmed
  12. Mainardi P, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, et al. The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet. 2006;49:363-83 pubmed
    The aim of this report is to provide an update on the natural history of the Cri du Chat Syndrome by means of the Italian Register (I.R.)...
  13. Zhang X, Snijders A, Segraves R, Zhang X, Niebuhr A, Albertson D, et al. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet. 2005;76:312-26 pubmed
    We have used array comparative genomic hybridization to map DNA copy-number changes in 94 patients with cri du chat syndrome who had been carefully evaluated for the presence of the characteristic cry, speech delay, facial dysmorphology, ..
  14. Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. 2006;1:33 pubmed
    The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants...
  15. Zhang A, Zheng C, Hou M, Lindvall C, Li K, Erlandsson F, et al. Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. Am J Hum Genet. 2003;72:940-8 pubmed
    b>Cri du chat syndrome (CdCS) results from loss of the distal portion of chromosome 5p, where the telomerase reverse transcriptase (hTERT) gene is localized (5p15.33)...
  16. Simmons A, Puschel A, McPherson J, Overhauser J, Lovett M. Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval. Biochem Biophys Res Commun. 1998;242:685-91 pubmed
    ..The known functions of semaphorins and the interesting pattern of expression for Semaf suggest that haploinsufficiency for SEMAF may disrupt normal brain development and might lead to some of the features of Cri-du-chat...
  17. Mainardi P, Perfumo C, Cali A, Coucourde G, Pastore G, Cavani S, et al. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet. 2001;38:151-8 pubmed
    The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability...
  18. Clarke D, Boer H. Problem behaviors associated with deletion Prader-Willi, Smith-Magenis, and cri du chat syndromes. Am J Ment Retard. 1998;103:264-71 pubmed
    ..The results lend support to the partial specificity model of behaviors associated with genetically determined syndromes...
  19. Levy B, Dunn T, Kern J, Hirschhorn K, Kardon N. Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat). Am J Med Genet. 2002;108:192-7 pubmed
    ..The combination of FISH, CGH, and cytogenetics has confirmed that the characteristic cry of the cri du chat syndrome is due to the deletion of the most distal part of the classic del 5p region...
  20. Moss J, Oliver C, Arron K, Burbidge C, Berg K. The prevalence and phenomenology of repetitive behavior in genetic syndromes. J Autism Dev Disord. 2009;39:572-88 pubmed publisher
    ..Prader-Willi, Cri-du-Chat and Smith-Magenis syndrome evidenced unique profiles of repetitive behavior. There is extreme heterogeneity of repetitive behavior across genetic syndromes, highlighting syndrome specific profiles. ..
  21. Sherer D, Eugene P, Dalloul M, Khoury Collado F, Abdelmalek E, Kheyman M, et al. Second-trimester diagnosis of cri du chat (5p-) syndrome following sonographic depiction of an absent fetal nasal bone. J Ultrasound Med. 2006;25:387-8 pubmed
  22. Richards C, Moss J, O farrell L, Kaur G, Oliver C. Social anxiety in Cornelia de Lange syndrome. J Autism Dev Disord. 2009;39:1155-62 pubmed publisher
    ..behavioral presentation of social anxiety in Cornelia de Lange syndrome (CdLS) using a contrast group of Cri du Chat syndrome (CdCS). Behaviors indicative of social anxiety were recorded in twelve children with CdLS (mean age = 11...
  23. Mosca A, Callier P, Leheup B, Marle N, Jalloul M, Coffinet L, et al. Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome. Am J Med Genet A. 2007;143A:1342-7 pubmed
    ..Cytogenetic analysis with FISH studies revealed a normal karyotype with normal 5q31 region in both parents. This case is compared with the other cases reported in the literature. ..
  24. Mason P, Bessler M. Heterozygous telomerase deficiency in mouse and man: when less is definitely not more. Cell Cycle. 2004;3:1127-9 pubmed
    ..Here we review several scenarios in which telomerase levels are disturbed, in human diseases or following genetic manipulation in mice. ..
  25. Mosso M. Clinical paper and statistics. Am J Med Genet A. 2003;117A:100 pubmed
  26. Azman B, Akhir S, Zilfalil B, Ankathil R. Two cases of deletion 5p syndrome: one with paternal involvement and another with atypical presentation. Singapore Med J. 2008;49:e98-e100 pubmed
    We report two cases of deletion 5p or cri du chat syndrome (CdCS) with different presentations and risks of transmission: one case with paternal chromosome 5 involvement and another, a de novo case with atypical clinical presentation...
  27. Erlenkamp S, Kristoffersen K. Sign communication in Cri du chat syndrome. J Commun Disord. 2010;43:225-51 pubmed publisher
    ..paper presents findings from a study on the use of sign supported Norwegian (SSN) in two individuals with Cri du chat syndrome (CCS)...
  28. Fang J, Lee K, Huang C, Syu C, Yang K, Wang L, et al. Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion. Clin Genet. 2008;73:585-90 pubmed publisher
    ..Our study suggests that other factors besides the size and location of 5p deletions may modify the mental presentations of patients with 5p deletions...
  29. Maas A, Didden R, Korzilius H, Braam W, Smits M, Curfs L. Sleep in individuals with Cri du Chat syndrome: a comparative study. J Intellect Disabil Res. 2009;53:704-15 pubmed publisher
    Sleep problems are common in individuals with intellectual disability. Little is known about sleep in children and adults with Cri du Chat syndrome (CDC).
  30. Cordier A, Braidy C, Levaillant J, Brisset S, Maurin M, Mas A, et al. Correlation between ultrasound and pathological examination in a prenatal diagnosis of Cri du Chat syndrome associated with partial trisomy 17q. Prenat Diagn. 2008;28:463-5 pubmed publisher
  31. Pizzamiglio M, 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;31:151-4 pubmed publisher
    ..Unlike control participants, she also improved in performing untrained tasks, which implied similar skills. Repercussions on L.D.J.'s autonomy and communication skills in daily life are described...
  32. Cotter P, Musci T. Interphase FISH with chromosome-specific protelomere probes for rapid prenatal diagnosis in a reciprocal translocation carrier. Prenat Diagn. 2001;21:171-5 pubmed
    ..2;p13)mat karyotype in the fetus. This case illustrates the utility of interphase FISH analysis with protelomere probes for rapid prenatal diagnosis in cases of parental reciprocal translocation...
  33. Ortiz Gorraiz M, Buitrago Sivianes S, Rodríguez Herrera F, Rosales Leal J, Martínez Morcillo A, Vicente Prados F, et al. [Testicular microlithiasis and testicular cancer]. Arch Esp Urol. 2003;56:521-4 pubmed
    ..The etiopathogenesis, incidence and attitude are discussed...
  34. Bechara E, Dutra F, Cardoso V, Sartori A, Olympio K, Penatti C, et al. The dual face of endogenous alpha-aminoketones: pro-oxidizing metabolic weapons. Comp Biochem Physiol C Toxicol Pharmacol. 2007;146:88-110 pubmed
    ..In addition, we comment briefly on a side prooxidant behaviour of hexosamines, that are known to constitute building blocks of several glycoproteins and to be involved in Schiff base-mediated enzymatic reactions...
  35. Bourthoumieu S, Esclaire F, Terro F, Baclet M, Bedu A, Dufetelle B, et al. "Cri-du-chat" syndrome in a patient born to a mother with a paracentric inversion of chromosome 5q. Ann Genet. 2003;46:483-6 pubmed
    ..Therefore, as might have been expected, maternal paracentric inversion of chromosome 5q and "cri-du-chat syndrome" presented by the daughter were not related...
  36. Sreekantaiah C, Kronn D, Marinescu R, Goldin B, Overhauser J. Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. Am J Med Genet. 1999;86:264-8 pubmed
    ..Such analyses of patients with an isolated catlike cry can avoid an incorrect diagnosis of the cri-du-chat syndrome, which is associated with a more severe prognosis...
  37. Kristoffersen K. Grammatical constructions in Cri du chat syndrome--findings from a case study. Clin Linguist Phon. 2009;23:858-71 pubmed publisher
    The literature on grammatical skills in persons with Cri du chat syndrome (CCS) is very limited, and the need for more knowledge in this area is thus evident, in particular for speech and language therapists working with individuals with ..
  38. Vera Carbonell A, Bafalliu J, Guillen Navarro E, Escalona A, Ballesta Martínez M, Fuster C, et al. Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. Am J Med Genet A. 2009;149A:2513-21 pubmed publisher
    ..We propose a potential causative mechanism for this rearrangement...
  39. Teoh X, Tan T, Chow K, Lee I. Prenatal diagnosis of cri-du-chat syndrome: importance of ultrasonographical markers. Singapore Med J. 2009;50:e181-4 pubmed
    ..This case report highlights the importance of careful examination of basic and extended foetal biometry and structures, as well as soft markers for the detection of rarer chromosomal abnormalities that may be missed at FTS...
  40. Kristoffersen K. Speech and language development in cri du chat syndrome: a critical review. Clin Linguist Phon. 2008;22:443-57 pubmed publisher
    This article reviews research on speech and language abilities in people with cri du chat syndrome (CCS)...
  41. Swanepoel D. Auditory pathology in cri-du-chat (5p-) syndrome: phenotypic evidence for auditory neuropathy. Clin Genet. 2007;72:369-73 pubmed
    ..Implications are for routine and diagnostic specific assessments of auditory functioning and for employment of non-verbal communication methods in early intervention...
  42. Laczmanska I, Stembalska A, Gil J, Czemarmazowicz H, Sasiadek M. Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems. Eur J Med Genet. 2006;49:87-92 pubmed
    A cytogenetic analysis was performed on an 8-day-old girl, who was suspected of Cri du chat syndrome (CdCS) on the basis of a cat-like cry, despite her dysmorphic features not being characteristic of this syndrome...
  43. Akalin I, Yararbas K, Akgul N, Babaoglu E, Akay G, Dyer S, et al. del5p/dup5q in a 'cri du chat' patient without parental chromosomal rearrangement. Am J Med Genet A. 2006;140:1016-20 pubmed
  44. Arisaka H, Sakuraba S, Matsumoto M, Kitahama H, Furuya M, Yoshida K, et al. Airway evaluation by CT imaging for cri-du-chat syndrome. J Anesth. 2006;20:258-9 pubmed
  45. South S, Swensen J, Maxwell T, Rope A, Brothman A, Chen Z. A new genomic mechanism leading to cri-du-chat syndrome. Am J Med Genet A. 2006;140:2714-20 pubmed
    ..This illustrates a new genomic mechanism of chromosome rearrangement leading to cri-du-chat syndrome and should provide significant information for the medical management of patients with other terminal deletion syndromes...
  46. DU H, Idol R, Robledo S, Ivanovich J, An P, Londono Vallejo A, et al. Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Aging Cell. 2007;6:689-97 pubmed
    ..However, our results suggest that several generations of TERT haploinsufficiency are needed to produce the very short telomeres seen in patients with DC...
  47. Saito N, Ebara S, Fukushima Y, Wakui K, Takaoka K. Progressive scoliosis in cri-du-chat syndrome over a 20-year follow-up period: a case report. Spine (Phila Pa 1976). 2001;26:835-7 pubmed
    ..A long-term follow-up study of a patient who had scoliosis associated with cri-du-chat syndrome was performed...
  48. Moreira L, de Carvalho A, Borja A, Pinto P, Silveira A, de Freitas L, et al. Mosaic cri-du-chat syndrome in a girl with a mild phenotype. J Appl Genet. 2008;49:415-20 pubmed
    ..This case is compared with other mosaic 5p- patients reported in the literature...
  49. Moss J, Oliver C, Berg K, Kaur G, Jephcott L, Cornish K. Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes. Am J Ment Retard. 2008;113:278-91 pubmed publisher
    ..to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat syndrome (M ages 12.4 [SD = 3.8] and 10.3 years [SD = 3.6], respectively)...
  50. Wang J, Coe B, Lomax B, MacLeod P, Parslow M, Schein J, et al. Inverted duplication with terminal deletion of 5p and no cat-like cry. Am J Med Genet A. 2008;146A:1173-9 pubmed publisher
    ..Review of the mapping information of cri-du-chat patients and the comparison with a previously reported patient suggested that the critical region for cat-like cry is located within a 0.6 Mb region...
  51. Bakkum J, Watson W, Johansen K, Brost B. Prenatal diagnosis of cri du chat syndrome with encephalocele. Am J Perinatol. 2005;22:351-2 pubmed
    ..Amniocentesis indicated cri du chat syndrome, 5p-...
  52. Collis L, Moss J, Jutley J, Cornish K, Oliver C. Facial expression of affect in children with Cornelia de Lange syndrome. J Intellect Disabil Res. 2008;52:207-15 pubmed publisher
    ..In this study, we use an objective measure of facial expression to compare affect in CdLS with that seen in Cri du Chat syndrome (CDC) and a group of individuals with a mixed aetiology of intellectual disabilities (ID).
  53. Murru D, Boccone L, Ristaldi M, Nucaro A. Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype. Genet Couns. 2008;19:381-6 pubmed
    The Cri du Chat Syndrome (CdCS) is one of the most common deletion syndromes, involving the short arm of chromosome 5, with an incidence of 1 in 50.000 live births...
  54. Nahed B, Ferreira M, Naunheim M, Kahle K, Proctor M, Smith E. Intracranial vasospasm with subsequent stroke after traumatic subarachnoid hemorrhage in a 22-month-old child. J Neurosurg Pediatr. 2009;3:311-5 pubmed publisher
    ..Thus, clinicians need to be alert to the possibility of vasospasm as a potential diagnosis when evaluating young children with SAH...
  55. Chen C, Lin S, Lin C, Li Y, Hsieh L, Lee C, et al. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial duplication of Yq (Yq11.2-->qter) and partial monosomy 5p (5p15.3-->pter). Prenat Diagn. 2005;25:723-5 pubmed
  56. Chang C, Lin S, Lin H, Chen Y, Kao H, Yeung C, et al. Cri-du-chat syndrome. Acta Paediatr Taiwan. 2007;48:328-31 pubmed
    ..Cri-du-chat syndrome is a genetic disorder associated with various sized deletions of the short arm of chromosome 5. There are typical physical features, but individual phenotypes vary considerably...
  57. Ninchoji T, Takanashi J. Pontine hypoplasia in 5p-syndrome: A key MRI finding for a diagnosis. Brain Dev. 2010;32:571-3 pubmed publisher
    ..Older patients with brainstem hypoplasia should be asked about a history of a high-pitched cry in infancy so as not to miss this syndrome...
  58. Takebayashi T, Obata H, Minaki Y, Sekine M, Imoto K, Yokogushi K, et al. Scoliosis in cat cry syndrome. J Orthop Sci. 2006;11:259-63 pubmed
    ..The characteristics and causes of scoliosis in this rare syndrome are unknown. The purpose of this study was to present the characteristics of scoliosis in cat cry syndrome and to speculate on its causative mechanisms...
  59. Torres C, Borsatto M, de Queiroz A, Lessa F, Orsi I. Cri du Chat syndrome: a case report. Spec Care Dentist. 2005;25:286-8 pubmed
    b>Cri du Chat Syndrome occurs as a result of a partial deletion in the short arm of chromosome 5...