Cri du chat syndrome: Difference between revisions

Revision as of 11:00, 15 February 2025

Cri du chat syndrome

Cri du chat syndrome, also known as 5p minus syndrome, is a rare genetic disorder caused by a deletion of a portion of chromosome 5. The name "cri du chat" is French for "cry of the cat," referring to the characteristic high-pitched cry of affected infants, which resembles the sound of a cat meowing.

Genetics

Cri du chat syndrome is caused by a deletion of the end of the short arm of chromosome 5 (5p-). The size of the deletion varies among individuals, and larger deletions tend to result in more severe symptoms. The deletion can occur spontaneously during the formation of reproductive cells or in early fetal development. In most cases, it is not inherited from a parent.

Symptoms

The most distinctive symptom of cri du chat syndrome is the high-pitched, cat-like cry in infancy. Other symptoms may include:

Microcephaly (small head size)
Intellectual disability
Delayed development
Distinctive facial features, such as a round face, wide-set eyes, and a small chin
Low birth weight
Weak muscle tone (hypotonia)

Diagnosis

Diagnosis of cri du chat syndrome is typically made based on the characteristic cry and physical features. Genetic testing, such as karyotyping or fluorescence in situ hybridization (FISH), can confirm the presence of a deletion on chromosome 5.

Management

There is no cure for cri du chat syndrome, but early intervention and supportive care can improve outcomes. Management may include:

Speech therapy
Physical therapy
Occupational therapy
Special education services

Prognosis

The prognosis for individuals with cri du chat syndrome varies depending on the size of the deletion and the severity of symptoms. With appropriate support and intervention, many individuals can lead fulfilling lives.

Related pages

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-'''Cri du chat syndrome''' (also known as '''5p- syndrome''' and '''cat's cry syndrome''') is a rare genetic disorder due to a missing part 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.
+== Cri du chat syndrome ==
-==Characteristics==
+[[File:Criduchat.jpg|thumb|right|Child with Cri du chat syndrome]]
-Cri du chat syndrome is characterized by a high-pitched cry that sounds like a cat, hence the name. This cry is due to abnormalities in the [[larynx]] and [[nervous system]]. Other symptoms include [[intellectual disability]], delayed development, distinctive facial features, small head size ([[microcephaly]]), widely-spaced eyes ([[hypertelorism]]), low birth weight and weak muscle tone ([[hypotonia]]) in infancy.
-==Cause==
+'''Cri du chat syndrome''', also known as '''5p minus syndrome''', is a rare genetic disorder caused by a deletion of a portion of chromosome 5. The name "cri du chat" is French for "cry of the cat," referring to the characteristic high-pitched cry of affected infants, which resembles the sound of a cat meowing.
-Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of [[chromosome 5]]. This deletion occurs very early in the development of an embryo and the size of the deletion varies among affected individuals. The signs and symptoms of the condition are likely related to the loss of multiple genes on this part of the chromosome.
-==Diagnosis==
+== Genetics ==
-Diagnosis of cri du chat syndrome is generally made through a physical examination during early infancy. The cat-like cry is the most prominent clinical feature in newborn children and is usually diagnostic for the cri du chat syndrome. Further diagnostic testing can be performed to confirm the diagnosis, such as a [[genetic testing]] to identify the deletion in chromosome 5.
-==Treatment==
+Cri du chat syndrome is caused by a deletion of the end of the short arm of chromosome 5 (5p-). The size of the deletion varies among individuals, and larger deletions tend to result in more severe symptoms. The deletion can occur spontaneously during the formation of reproductive cells or in early fetal development. In most cases, it is not inherited from a parent.
-There is no specific treatment for cri du chat syndrome. Medical therapy is based on the individual's symptoms and needs. Early intervention with physical, occupational, and speech therapy is important for children with cri du chat syndrome to reach their full developmental potential.
-==Epidemiology==
+== Symptoms ==
-Cri du chat syndrome is rare, but it is one of the most common syndromes caused by a chromosomal deletion. It affects between 1 in 20,000 to 50,000 newborns. The condition is more common in females than in males.
+The most distinctive symptom of cri du chat syndrome is the high-pitched, cat-like cry in infancy. Other symptoms may include:
+* [[Microcephaly]] (small head size)
+* [[Intellectual disability]]
+* Delayed development
+* Distinctive facial features, such as a round face, wide-set eyes, and a small chin
+* Low birth weight
+* Weak muscle tone (hypotonia)
+== Diagnosis ==
+Diagnosis of cri du chat syndrome is typically made based on the characteristic cry and physical features. Genetic testing, such as [[karyotyping]] or [[fluorescence in situ hybridization]] (FISH), can confirm the presence of a deletion on chromosome 5.
+== Management ==
+There is no cure for cri du chat syndrome, but early intervention and supportive care can improve outcomes. Management may include:
+* Speech therapy
+* Physical therapy
+* Occupational therapy
+* Special education services
+== Prognosis ==
+The prognosis for individuals with cri du chat syndrome varies depending on the size of the deletion and the severity of symptoms. With appropriate support and intervention, many individuals can lead fulfilling lives.
+== Related pages ==
-==See also==
 * [[Genetic disorder]]
-* [[Chromosome deletion]]
+* [[Chromosome 5 (human)]]
-* [[Chromosomal abnormalities]]
+* [[Intellectual disability]]
 [[Category:Genetic disorders]]
-[[Category:Rare diseases]]
-[[Category:Syndromes]]
-{{Genetic disorder}}
-{{Rare diseases}}
-[[Category:Syndromes]] {{stub}}