Ardalan–Shoja–Kiuru syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Ardalan–Shoja–Kiuru syndrome | |||
| synonyms = | |||
| field = [[Nephrology]], [[Dermatology]] | |||
| symptoms = [[Kidney failure]], [[Skin rash]], [[Hypertension]] | |||
| complications = [[Chronic kidney disease]], [[End-stage renal disease]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[Biopsy]] | |||
| differential = [[Alport syndrome]], [[Fabry disease]] | |||
| prevention = | |||
| treatment = [[Dialysis]], [[Kidney transplant]], [[Antihypertensive medication]] | |||
| medication = [[ACE inhibitors]], [[Angiotensin II receptor blockers]] | |||
| prognosis = | |||
| frequency = | |||
| deaths = | |||
}} | |||
'''Ardalan–Shoja–Kiuru syndrome''' is a rare genetic disorder characterized by a variety of symptoms and physical abnormalities. The syndrome is named after the three doctors who first described it: Dr. Ardalan, Dr. Shoja, and Dr. Kiuru. | |||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of Ardalan–Shoja–Kiuru syndrome can vary greatly from person to person. However, some common symptoms include: | |||
The symptoms of | |||
* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
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* [[Facial dysmorphism]] (unusual facial features) | * [[Facial dysmorphism]] (unusual facial features) | ||
* [[Skeletal abnormalities]] | * [[Skeletal abnormalities]] | ||
== Causes == | == Causes == | ||
Ardalan–Shoja–Kiuru syndrome is caused by mutations in a specific gene. This gene is responsible for producing a protein that plays a crucial role in the development and function of various parts of the body. When this gene is mutated, it can lead to the symptoms and physical abnormalities associated with Ardalan–Shoja–Kiuru syndrome. | |||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Ardalan–Shoja–Kiuru syndrome is typically based on the presence of characteristic symptoms and physical abnormalities. Genetic testing can also be used to confirm the diagnosis. | |||
Diagnosis of | |||
== Treatment == | == Treatment == | ||
There is currently no cure for Ardalan–Shoja–Kiuru syndrome. Treatment is typically focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and special education services. | |||
There is currently no cure for | |||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Ardalan–Shoja–Kiuru syndrome can vary greatly depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications associated with the syndrome. | |||
The prognosis for individuals with | |||
== See Also == | == See Also == | ||
* [[List of genetic disorders]] | * [[List of genetic disorders]] | ||
* [[Genetic testing]] | * [[Genetic testing]] | ||
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* [[Occupational therapy]] | * [[Occupational therapy]] | ||
* [[Special education]] | * [[Special education]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 22:12, 3 April 2025
| Ardalan–Shoja–Kiuru syndrome | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Kidney failure, Skin rash, Hypertension |
| Complications | Chronic kidney disease, End-stage renal disease |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, Biopsy |
| Differential diagnosis | Alport syndrome, Fabry disease |
| Prevention | |
| Treatment | Dialysis, Kidney transplant, Antihypertensive medication |
| Medication | ACE inhibitors, Angiotensin II receptor blockers |
| Prognosis | |
| Frequency | |
| Deaths | |
Ardalan–Shoja–Kiuru syndrome is a rare genetic disorder characterized by a variety of symptoms and physical abnormalities. The syndrome is named after the three doctors who first described it: Dr. Ardalan, Dr. Shoja, and Dr. Kiuru.
Symptoms and Signs[edit]
The symptoms of Ardalan–Shoja–Kiuru syndrome can vary greatly from person to person. However, some common symptoms include:
- Developmental delay
- Intellectual disability
- Seizures
- Microcephaly (small head size)
- Short stature
- Facial dysmorphism (unusual facial features)
- Skeletal abnormalities
Causes[edit]
Ardalan–Shoja–Kiuru syndrome is caused by mutations in a specific gene. This gene is responsible for producing a protein that plays a crucial role in the development and function of various parts of the body. When this gene is mutated, it can lead to the symptoms and physical abnormalities associated with Ardalan–Shoja–Kiuru syndrome.
Diagnosis[edit]
Diagnosis of Ardalan–Shoja–Kiuru syndrome is typically based on the presence of characteristic symptoms and physical abnormalities. Genetic testing can also be used to confirm the diagnosis.
Treatment[edit]
There is currently no cure for Ardalan–Shoja–Kiuru syndrome. Treatment is typically focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and special education services.
Prognosis[edit]
The prognosis for individuals with Ardalan–Shoja–Kiuru syndrome can vary greatly depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications associated with the syndrome.
