Cri du chat - Wikipedia, the free encyclopedia

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Cri du chat
From Wikipedia, the free encyclopedia

Cri du chat syndrome, also known

as chromosome 5p deletion
syndrome, 5p (said minus)
syndrome or Lejeunes syndrome,
is a rare genetic disorder due to a
missing part (deletion) of
chromosome 5. Its name is a French
term (cat-cry or call of the cat)
referring to the characteristic cat-like
cry of affected children. It was first
described by Jrme Lejeune in

Cri du chat or Cri-du-chat

1963.[1] The condition affects an

estimated 1 in 50,000 live births,
strikes all ethnicities, and is more
common in females by a 4:3 ratio.[2]

Contents
1 Signs and symptoms
2 Genetics
3 Diagnosis and
management
4 References
5 External links

Signs and symptoms

Facial features of a patient with Cri du Chat syndrome at age of 8 months (A), 2
years (B), 4 years (C) and 9 years (D)
Classification and external resources
ICD-10

Q93.4
(http://apps.who.int/classifications/icd10/browse/2015/en#/Q93.4)

ICD-9

758.31 (http://www.icd9data.com/getICD9Code.ashx?
icd9=758.31)

OMIM

123450 (http://omim.org/entry/123450)

DiseasesDB 29133 (http://www.diseasesdatabase.com/ddb29133.htm)

MedlinePlus 001593
(http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm)

The syndrome gets its name from the

characteristic cry of affected infants,
eMedicine ped/504 (http://www.emedicine.com/ped/topic504.htm)
which is similar to that of a meowing
Patient UK Cri du chat (http://www.patient.co.uk/doctor/cri-du-chatkitten, due to problems with the
larynx and nervous system. About
syndrome-pro)
1/3 of children lose the cry by age 2.
Other symptoms of cri du chat syndrome may include:
feeding problems because of difficulty swallowing and sucking;
low birth weight and poor growth;
severe cognitive, speech, and motor delays;
behavioral problems such as hyperactivity, aggression, tantrums, and repetitive movements;
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unusual facial features which may change over time;

excessive drooling;
small head and jaw;
wide eyes;
skin tags in front of eyes.
Other common findings include hypotonia, microcephaly, growth retardation, a round face with full cheeks,
hypertelorism, epicanthal folds, down-slanting palpebral fissures, strabismus, flat nasal bridge, down-turned
mouth, micrognathia, low-set ears, short fingers, single palmar creases, and cardiac defects (e.g., ventricular
septal defect [VSD], atrial septal defect [ASD], patent ductus arteriosus [PDA], tetralogy of Fallot). Infertility is
not associated with Cri du chat.
It has also been observed that people with the condition have difficulties communicating. While levels of
proficiency can range from a few words to short sentences, it is often recommended by medical professionals
for the child to undergo some sort of speech therapy/aid with the help of a professional.
Less frequently encountered findings include cleft lip and palate, preauricular tags and fistulas, thymic
dysplasia, intestinal malrotation, megacolon, inguinal hernia, dislocated hips, cryptorchidism, hypospadias, rare
renal malformations (e.g., horseshoe kidneys, renal ectopia or agenesis, hydronephrosis), clinodactyly of the
fifth fingers, talipes equinovarus, pes planus, syndactyly of the second and third fingers and toes,
oligosyndactyly, and hyperextensible joints. The syndrome may also include various dermatoglyphics,
including transverse flexion creases, distal axial triradius, increased whorls and arches on digits, and a single
palmar crease.
Late childhood and adolescence findings include significant intellectual disability, microcephaly, coarsening of
facial features, prominent supraorbital ridges, deep-set eyes, hypoplastic nasal bridge, severe malocclusion, and
scoliosis.
Affected females reach puberty, develop secondary sex characteristics, and menstruate at the usual time. The
genital tract is usually normal in females except for a report of a bicornuate uterus. In males, testes are often
small, but spermatogenesis is thought to be normal.

Genetics
Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p
monosomy" or "partial monosomy." Approximately 90% of cases result from a sporadic, or randomly
occurring, de novo deletion. The remaining 10-15% are due to unequal segregation of a parental balanced
translocation where the 5p monosomy is often accompanied by a trisomic portion of the genome. These
individuals may have more severe disease than those with isolated monosomy of 5p. A recent study suggests
this may not be the case where a trisomy of chromosome 4q is involved.[3]
Most cases involve total loss of the most distant 10-20% of the material on the short arm. Fewer than 10% of
cases have other rare cytogenetic aberrations (e.g., interstitial deletions, mosaicisms, rings and de novo
translocations). The deleted chromosome 5 is paternal in origin in about 80% of de novo cases. Loss of a small
region in band 5p15.2 (cri du chat critical region) correlates with all the clinical features of the syndrome with
the exception of the catlike cry, which maps to band 5p15.3 (catlike critical region). The results suggest that 2
noncontiguous critical regions contain genes involved in this condition's etiology. Two genes in these regions,
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Semaphorine F (SEMA5A) and delta catenin (CTNND2), are potentially involved in cerebral development. The
deletion of the telomerase reverse transcriptase (hTERT) gene localized in 5p15.33 may contribute to the
phenotypic changes in cri du chat syndrome as well.

Diagnosis and management

Diagnosis is based on the distinctive cry and accompanying physical problems. These common symptoms are
quite easily observed in infants. Affected children are typically diagnosed by a doctor or nurse at birth. Genetic
counseling and genetic testing may be offered to families with individuals who have cri du chat syndrome.
Prenatally the deletion of the cri du chat related region in the p arm of chromosome 5 can be detected from
amniotic fluid or chorionic villi samples with BACs-on-Beads technology. G-banded karyotype of a carrier is
also useful.[4] Children may be treated by speech, physical and occupational therapists.[5] Heart abnormalities
often require surgical correction.

References
1. Lejeune J, Lafourcade J, Berger R et al. (1963). "[3 Cases of partial deletion of the short arm of chromosome 5]". C. R.
Hebd. Seances Acad. Sci. (in French) 257: 3098102. PMID 14095841
(https://www.ncbi.nlm.nih.gov/pubmed/14095841).
2. ped/504 (http://www.emedicine.com/ped/topic504.htm#) at eMedicine
3. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3539376/
4. "Cri-du-chat Syndrome" (http://emedicine.medscape.com/article/942897-overview). Medscape. 11 August 2011.
Retrieved 10 August 2012.
5. http://www.biomedcentral.com/content/pdf/1750-1172-1-33.pdf

External links
Cri du chat
(https://www.dmoz.org/Health/Conditions_and_Diseases/Neurological_Disorders/Chromosomal/Cri_du_Chat_
Syndrome) at DMOZ
Retrieved from "http://en.wikipedia.org/w/index.php?title=Cri_du_chat&oldid=659889046"
Categories: Autosomal monosomies and deletions Rare diseases Syndromes
This page was last modified on 29 April 2015, at 15:26.
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