Cri du chat syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Cri du chat syndrome | |||
| image = [[File:Criduchat.jpg|alt=Image of a child with Cri du chat syndrome]] | |||
| caption = A child with Cri du chat syndrome | |||
| synonyms = 5p− syndrome, Lejeune’s syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = High-pitched cat-like cry, [[microcephaly]], [[intellectual disability]], [[delayed development]], [[distinctive facial features]] | |||
| onset = At birth | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] (deletion of the short arm of chromosome 5) | |||
| risks = | |||
| diagnosis = [[Karyotype]] | |||
| differential = [[Down syndrome]], [[Edwards syndrome]], [[Patau syndrome]] | |||
| prevention = Genetic counseling | |||
| treatment = Supportive care, [[speech therapy]], [[physical therapy]] | |||
| medication = | |||
| prognosis = Varies; many individuals live into adulthood | |||
| frequency = 1 in 20,000 to 50,000 live births | |||
| deaths = | |||
}} | |||
== Cri du chat syndrome == | == Cri du chat syndrome == | ||
[[File:Criduchat.jpg|left|thumb|Child with Cri du chat syndrome]] | |||
[[File:Criduchat.jpg|thumb | |||
'''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''', 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 == | == 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. | 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 == | == Symptoms == | ||
The most distinctive symptom of cri du chat syndrome is the high-pitched, cat-like cry in infancy. Other symptoms may include: | 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) | * [[Microcephaly]] (small head size) | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
| Line 19: | Line 34: | ||
* Low birth weight | * Low birth weight | ||
* Weak muscle tone (hypotonia) | * Weak muscle tone (hypotonia) | ||
== Diagnosis == | == 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. | 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 == | == Management == | ||
There is no cure for cri du chat syndrome, but early intervention and supportive care can improve outcomes. Management may include: | There is no cure for cri du chat syndrome, but early intervention and supportive care can improve outcomes. Management may include: | ||
* Speech therapy | * Speech therapy | ||
* Physical therapy | * Physical therapy | ||
* Occupational therapy | * Occupational therapy | ||
* Special education services | * Special education services | ||
== Prognosis == | == 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. | 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. | ||
== See also == | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Chromosome 5 (human)]] | * [[Chromosome 5 (human)]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 13:35, 5 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Cri du chat syndrome | |
|---|---|
| |
| Synonyms | 5p− syndrome, Lejeune’s syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | High-pitched cat-like cry, microcephaly, intellectual disability, delayed development, distinctive facial features |
| Complications | N/A |
| Onset | At birth |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation (deletion of the short arm of chromosome 5) |
| Risks | |
| Diagnosis | Karyotype |
| Differential diagnosis | Down syndrome, Edwards syndrome, Patau syndrome |
| Prevention | Genetic counseling |
| Treatment | Supportive care, speech therapy, physical therapy |
| Medication | |
| Prognosis | Varies; many individuals live into adulthood |
| Frequency | 1 in 20,000 to 50,000 live births |
| Deaths | |
Cri du chat syndrome[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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.
