Emanuel syndrome: Difference between revisions
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[[File:Human_male_karyotpe_high_resolution_-_Chromosome_11_cropped. | {{SI}} {{Infobox medical condition | ||
| name = Emanuel syndrome | |||
| image = [[File:Human_male_karyotpe_high_resolution_-_Chromosome_11_cropped.png|alt=Chromosome 11]] | |||
| caption = Chromosome 11, involved in Emanuel syndrome | |||
| synonyms = Supernumerary der(22) syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[intellectual disability]], [[congenital heart defects]], [[craniofacial abnormalities]] | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = [[Chromosomal translocation]] | |||
| risks = | |||
| diagnosis = [[Karyotype analysis]], [[genetic testing]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Supportive care]], [[therapies for developmental disabilities]] | |||
| medication = | |||
| prognosis = Variable | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Emanuel syndrome''' is a rare genetic disorder characterized by multiple congenital anomalies and developmental delays. It is caused by the presence of an extra chromosome derived from chromosomes 11 and 22, known as a supernumerary derivative chromosome 22. | |||
== Genetics == | == Genetics == | ||
Emanuel syndrome is typically caused by a chromosomal translocation between chromosomes 11 and 22. This translocation results in the formation of an extra derivative chromosome, which contains additional genetic material from both chromosomes. The condition is usually inherited from a parent who carries a balanced translocation, meaning they have the same chromosomal rearrangement but without any associated symptoms. | Emanuel syndrome is typically caused by a chromosomal translocation between chromosomes 11 and 22. This translocation results in the formation of an extra derivative chromosome, which contains additional genetic material from both chromosomes. The condition is usually inherited from a parent who carries a balanced translocation, meaning they have the same chromosomal rearrangement but without any associated symptoms. | ||
== Clinical Features == | == Clinical Features == | ||
Individuals with Emanuel syndrome often present with a variety of clinical features, including: | Individuals with Emanuel syndrome often present with a variety of clinical features, including: | ||
| Line 13: | Line 32: | ||
* Feeding difficulties | * Feeding difficulties | ||
* Hearing loss | * Hearing loss | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Emanuel syndrome is confirmed through genetic testing, specifically [[karyotyping]] and [[fluorescence in situ hybridization]] (FISH). These tests can identify the presence of the supernumerary derivative chromosome 22. | The diagnosis of Emanuel syndrome is confirmed through genetic testing, specifically [[karyotyping]] and [[fluorescence in situ hybridization]] (FISH). These tests can identify the presence of the supernumerary derivative chromosome 22. | ||
== Management == | == Management == | ||
There is no cure for Emanuel syndrome, and treatment is primarily supportive and symptomatic. Management may include: | There is no cure for Emanuel syndrome, and treatment is primarily supportive and symptomatic. Management may include: | ||
| Line 23: | Line 40: | ||
* Surgical interventions for congenital heart defects and other structural anomalies | * Surgical interventions for congenital heart defects and other structural anomalies | ||
* Regular monitoring and treatment for hearing loss and feeding difficulties | * Regular monitoring and treatment for hearing loss and feeding difficulties | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Emanuel syndrome varies depending on the severity of the associated anomalies and the effectiveness of the supportive care provided. Many individuals with Emanuel syndrome have significant developmental and medical challenges, but with appropriate interventions, they can achieve improved quality of life. | The prognosis for individuals with Emanuel syndrome varies depending on the severity of the associated anomalies and the effectiveness of the supportive care provided. Many individuals with Emanuel syndrome have significant developmental and medical challenges, but with appropriate interventions, they can achieve improved quality of life. | ||
== See Also == | |||
== | |||
* [[Chromosomal translocation]] | * [[Chromosomal translocation]] | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
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* [[Karyotyping]] | * [[Karyotyping]] | ||
* [[Fluorescence in situ hybridization]] | * [[Fluorescence in situ hybridization]] | ||
== References == | == References == | ||
{{Reflist}} | {{Reflist}} | ||
== External Links == | == External Links == | ||
{{No external links}} | {{No external links}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 01:52, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Emanuel syndrome | |
|---|---|
| |
| Synonyms | Supernumerary der(22) syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, intellectual disability, congenital heart defects, craniofacial abnormalities |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Chromosomal translocation |
| Risks | |
| Diagnosis | Karyotype analysis, genetic testing |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care, therapies for developmental disabilities |
| Medication | |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | |
Emanuel syndrome is a rare genetic disorder characterized by multiple congenital anomalies and developmental delays. It is caused by the presence of an extra chromosome derived from chromosomes 11 and 22, known as a supernumerary derivative chromosome 22.
Genetics[edit]
Emanuel syndrome is typically caused by a chromosomal translocation between chromosomes 11 and 22. This translocation results in the formation of an extra derivative chromosome, which contains additional genetic material from both chromosomes. The condition is usually inherited from a parent who carries a balanced translocation, meaning they have the same chromosomal rearrangement but without any associated symptoms.
Clinical Features[edit]
Individuals with Emanuel syndrome often present with a variety of clinical features, including:
- Developmental delay and intellectual disability
- Hypotonia (low muscle tone)
- Distinctive facial features such as micrognathia (small jaw), ear anomalies, and cleft or high-arched palate
- Congenital heart defects
- Genitourinary anomalies
- Feeding difficulties
- Hearing loss
Diagnosis[edit]
The diagnosis of Emanuel syndrome is confirmed through genetic testing, specifically karyotyping and fluorescence in situ hybridization (FISH). These tests can identify the presence of the supernumerary derivative chromosome 22.
Management[edit]
There is no cure for Emanuel syndrome, and treatment is primarily supportive and symptomatic. Management may include:
- Early intervention programs and special education to address developmental delays
- Physical therapy to improve muscle tone and motor skills
- Surgical interventions for congenital heart defects and other structural anomalies
- Regular monitoring and treatment for hearing loss and feeding difficulties
Prognosis[edit]
The prognosis for individuals with Emanuel syndrome varies depending on the severity of the associated anomalies and the effectiveness of the supportive care provided. Many individuals with Emanuel syndrome have significant developmental and medical challenges, but with appropriate interventions, they can achieve improved quality of life.
See Also[edit]
- Chromosomal translocation
- Developmental delay
- Congenital heart defect
- Genetic disorder
- Karyotyping
- Fluorescence in situ hybridization
References[edit]
<references group="" responsive="1"></references>
External Links[edit]
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