Jusselle: Difference between revisions
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{{Infobox medical condition | |||
| name = Jusselle Syndrome | |||
| image = <!-- Image removed --> | |||
| caption = <!-- Caption removed --> | |||
| field = [[Genetics]] | |||
| symptoms = [[Developmental delay]], [[Intellectual disability]], [[Facial dysmorphism]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| diagnosis = [[Genetic testing]] | |||
| treatment = [[Supportive care]] | |||
| prognosis = [[Variable]] | |||
}} | |||
'''Jusselle Syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[developmental delay]], [[intellectual disability]], and distinct [[facial dysmorphism]]. The condition is [[congenital]], meaning it is present from birth, and is caused by a [[genetic mutation]]. | |||
[[ | == Signs and Symptoms == | ||
Individuals with Jusselle Syndrome typically exhibit [[developmental delay]] and [[intellectual disability]]. The degree of [[intellectual disability]] can vary among affected individuals. Distinctive [[facial dysmorphism]] is also a common feature, which may include [[microcephaly]], [[hypertelorism]], and [[epicanthal folds]]. | |||
== Causes == | |||
Jusselle Syndrome is caused by a [[genetic mutation]] that affects normal development. The specific gene or genes involved in the syndrome have not been fully identified, but it is believed to be inherited in an [[autosomal dominant]] pattern. | |||
== | == Diagnosis == | ||
Diagnosis of Jusselle Syndrome is primarily based on clinical evaluation and [[genetic testing]]. [[Genetic testing]] can confirm the presence of the mutation associated with the syndrome. | |||
== Treatment == | |||
There is no cure for Jusselle Syndrome, and treatment is focused on [[supportive care]]. This may include [[physical therapy]], [[occupational therapy]], and [[speech therapy]] to help manage symptoms and improve quality of life. | |||
== | == Prognosis == | ||
The prognosis for individuals with Jusselle Syndrome is [[variable]] and depends on the severity of symptoms. Early intervention and supportive therapies can improve outcomes for affected individuals. | |||
Jusselle | |||
== See Also == | == See Also == | ||
* [[ | * [[Genetic disorder]] | ||
* [[ | * [[Developmental delay]] | ||
* [[ | * [[Intellectual disability]] | ||
== References == | == References == | ||
<references /> | |||
== External Links == | |||
* [Genetic and Rare Diseases Information Center (GARD)](https://rarediseases.info.nih.gov/) | |||
[[Category: | [[Category:Genetic disorders]] | ||
[[Category: | [[Category:Rare diseases]] | ||
[[Category: | [[Category:Congenital disorders]] | ||
Latest revision as of 20:25, 30 December 2024
| Jusselle Syndrome | |
|---|---|
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Developmental delay, Intellectual disability, Facial dysmorphism |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | N/A |
| Diagnosis | Genetic testing |
| Differential diagnosis | N/A |
| Prevention | N/A |
| Treatment | Supportive care |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | N/A |
| Deaths | N/A |
Jusselle Syndrome is a rare genetic disorder characterized by a combination of developmental delay, intellectual disability, and distinct facial dysmorphism. The condition is congenital, meaning it is present from birth, and is caused by a genetic mutation.
Signs and Symptoms[edit]
Individuals with Jusselle Syndrome typically exhibit developmental delay and intellectual disability. The degree of intellectual disability can vary among affected individuals. Distinctive facial dysmorphism is also a common feature, which may include microcephaly, hypertelorism, and epicanthal folds.
Causes[edit]
Jusselle Syndrome is caused by a genetic mutation that affects normal development. The specific gene or genes involved in the syndrome have not been fully identified, but it is believed to be inherited in an autosomal dominant pattern.
Diagnosis[edit]
Diagnosis of Jusselle Syndrome is primarily based on clinical evaluation and genetic testing. Genetic testing can confirm the presence of the mutation associated with the syndrome.
Treatment[edit]
There is no cure for Jusselle Syndrome, and treatment is focused on supportive care. This may include physical therapy, occupational therapy, and speech therapy to help manage symptoms and improve quality of life.
Prognosis[edit]
The prognosis for individuals with Jusselle Syndrome is variable and depends on the severity of symptoms. Early intervention and supportive therapies can improve outcomes for affected individuals.
See Also[edit]
References[edit]
<references />
External Links[edit]
- [Genetic and Rare Diseases Information Center (GARD)](https://rarediseases.info.nih.gov/)