Senter syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Senter syndrome | |||
| synonyms = [[Senter syndrome]] | |||
| field = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], [[hearing loss]], [[skeletal abnormalities]], [[dental anomalies]] | |||
| onset = [[Congenital]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical evaluation]], [[genetic testing]] | |||
| differential = [[Otopalatodigital syndrome]], [[Melnick-Needles syndrome]] | |||
| treatment = [[Supportive care]], [[hearing aids]], [[physical therapy]] | |||
| prognosis = [[Variable]] | |||
| frequency = [[Rare]] | |||
}} | |||
'''Senter syndrome''' is a rare genetic disorder characterized by [[pigmentation]] abnormalities, [[sensorineural hearing loss]], and [[peripheral neuropathy]]. The syndrome is named after the researcher who first described it, Dr. Senter. | '''Senter syndrome''' is a rare genetic disorder characterized by [[pigmentation]] abnormalities, [[sensorineural hearing loss]], and [[peripheral neuropathy]]. The syndrome is named after the researcher who first described it, Dr. Senter. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The primary symptoms of Senter syndrome include: | The primary symptoms of Senter syndrome include: | ||
* [[Pigmentation]] abnormalities: These can range from [[hypopigmentation]] (reduced pigmentation) to [[hyperpigmentation]] (increased pigmentation), and can affect any part of the body. | * [[Pigmentation]] abnormalities: These can range from [[hypopigmentation]] (reduced pigmentation) to [[hyperpigmentation]] (increased pigmentation), and can affect any part of the body. | ||
* [[Sensorineural hearing loss]]: This is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). | * [[Sensorineural hearing loss]]: This is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). | ||
* [[Peripheral neuropathy]]: This is a result of damage to the peripheral nerves, often causing weakness, numbness and pain, usually in the hands and feet. | * [[Peripheral neuropathy]]: This is a result of damage to the peripheral nerves, often causing weakness, numbness and pain, usually in the hands and feet. | ||
== Causes == | == Causes == | ||
Senter syndrome is caused by mutations in the [[MITF]] gene. This gene provides instructions for making a protein that plays a role in the development of several types of cells, including melanocytes (cells that produce the pigment melanin), osteoclasts (cells that break down bone), and mast cells (cells that play a role in the immune system). | Senter syndrome is caused by mutations in the [[MITF]] gene. This gene provides instructions for making a protein that plays a role in the development of several types of cells, including melanocytes (cells that produce the pigment melanin), osteoclasts (cells that break down bone), and mast cells (cells that play a role in the immune system). | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Senter syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing showing a mutation in the [[MITF]] gene. | Diagnosis of Senter syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing showing a mutation in the [[MITF]] gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Senter syndrome. Treatment is symptomatic and supportive, and may include hearing aids for sensorineural hearing loss and physical therapy for peripheral neuropathy. | There is currently no cure for Senter syndrome. Treatment is symptomatic and supportive, and may include hearing aids for sensorineural hearing loss and physical therapy for peripheral neuropathy. | ||
== See also == | == See also == | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Sensorineural hearing loss]] | * [[Sensorineural hearing loss]] | ||
* [[Peripheral neuropathy]] | * [[Peripheral neuropathy]] | ||
== References == | == References == | ||
{{reflist}} | {{reflist}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 02:11, 4 April 2025
| Senter syndrome | |
|---|---|
| Synonyms | Senter syndrome |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Intellectual disability, hearing loss, skeletal abnormalities, dental anomalies |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical evaluation, genetic testing |
| Differential diagnosis | Otopalatodigital syndrome, Melnick-Needles syndrome |
| Prevention | N/A |
| Treatment | Supportive care, hearing aids, physical therapy |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
Senter syndrome is a rare genetic disorder characterized by pigmentation abnormalities, sensorineural hearing loss, and peripheral neuropathy. The syndrome is named after the researcher who first described it, Dr. Senter.
Symptoms and Signs[edit]
The primary symptoms of Senter syndrome include:
- Pigmentation abnormalities: These can range from hypopigmentation (reduced pigmentation) to hyperpigmentation (increased pigmentation), and can affect any part of the body.
- Sensorineural hearing loss: This is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).
- Peripheral neuropathy: This is a result of damage to the peripheral nerves, often causing weakness, numbness and pain, usually in the hands and feet.
Causes[edit]
Senter syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development of several types of cells, including melanocytes (cells that produce the pigment melanin), osteoclasts (cells that break down bone), and mast cells (cells that play a role in the immune system).
Diagnosis[edit]
Diagnosis of Senter syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing showing a mutation in the MITF gene.
Treatment[edit]
There is currently no cure for Senter syndrome. Treatment is symptomatic and supportive, and may include hearing aids for sensorineural hearing loss and physical therapy for peripheral neuropathy.
See also[edit]
References[edit]
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