Cri-du-chat syndrome Congenital microdeletion of short arm of

chromosome 5 (46,XX or XY, 5p−).

Findings: microcephaly, moderate to
severe intellectual disability, high-pitched
crying/mewing, epicanthal folds, cardiac
abnormalities (VSD).

Cri du chat = cry of the cat.

Cri du chat syndrome

Other Names:
 
Cat cry syndrome; 5p minus syndrome; Chromosome 5p deletion syndrome; See More
Categories:
 
Congenital and Genetic Diseases; Eye diseases

Summary
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Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is
a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm)
of chromosome 5.[1][2] Infants with this condition often have a high-pitched cry that sounds like
that of a cat. The disorder is characterized by intellectual disability and delayed development,
small head size, low birth weight, weak muscle tone in infancy, and distinctive facial features.
[2]
 While cri du chat syndrome is a genetic condition, most cases are not inherited.[1][2]
Last updated: 2/22/2015

Symptoms
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The Human Phenotype Ontology (HPO) provides the following list of features that have been
reported in people with this condition. Much of the information in the HPO comes
from Orphanet, a European rare disease database. If available, the list includes a rough estimate
of how common a feature is (its frequency). Frequencies are based on a specific study and may
not be representative of all studies. You can use the MedlinePlus Medical Dictionary for
definitions of the terms below.
Approximate number of
Signs and Symptoms
patients (when available)
Cat cry Very frequent 
(present in 80%-99% of cases)
 Approximate number of
Signs and Symptoms
patients (when available)
Epicanthus Very frequent 
(present in 80%-99% of cases)

High pitched voice Very frequent 

(present in 80%-99% of cases)

Intellectual disability, severe Very frequent 

(present in 80%-99% of cases)

Low-set, posteriorly rotated ears Very frequent 

(present in 80%-99% of cases)

Microcephaly Very frequent 

(present in 80%-99% of cases)

Microretrognathia Very frequent 

(present in 80%-99% of cases)

Muscular hypotonia Very frequent 

(present in 80%-99% of cases)

Round face Very frequent 

(present in 80%-99% of cases)
Severe global developmental Very frequent 
delay (present in 80%-99% of cases)
View complete list of signs and symptoms... 
Last updated: 3/10/2017

Cause
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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 but studies suggest that larger deletions tend to result in more severe intellectual
disability and developmental delay than smaller deletions.[2]
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.[2]
 
Last updated: 4/7/2014

Inheritance
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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. Most affected individuals
do not have a history of the disorder in their family. [2] 

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. This results in the intellectual disability and
other health problems characteristic of the disorder.[2]
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 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.

The CTNND2 gene provides instructions for making a protein called delta-catenin. This

protein is active in the nervous system, where it likely helps cells stick together (cell
adhesion) and plays a role in cell movement. In the developing brain, it may help guide
nerve cells to their proper positions as part of a process known as neuronal migration.

In mature nerve cells, delta-catenin is located in specialized outgrowths called

dendrites. Dendrites branch out from the cell and receive information from nearby nerve
cells. This information is relayed across synapses, which are junctions between nerve
cells where cell-to-cell communication occurs. Delta-catenin appears to play a crucial
role in the function of synapses.
https://ghr.nlm.nih.gov/gene/CTNND2