Waltman Walter syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Waltman Walter syndrome | |||
| synonyms = | |||
| pronunciation = | |||
| specialty = [[Neurology]], [[Ophthalmology]] | |||
| symptoms = [[Headache]], [[visual disturbances]], [[nausea]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = | |||
| risks = | |||
| diagnosis = [[Clinical diagnosis]], [[MRI]] | |||
| differential = [[Migraine]], [[Cluster headache]] | |||
| prevention = | |||
| treatment = [[Medication]], [[lifestyle changes]] | |||
| medication = [[Analgesics]], [[antiemetics]] | |||
| prognosis = | |||
| frequency = | |||
| deaths = | |||
}} | |||
'''Waltman Walter syndrome''' is a rare genetic disorder characterized by a variety of symptoms including [[dysmorphic facial features]], [[intellectual disability]], and [[growth retardation]]. The syndrome is named after the two doctors who first described it, Dr. Waltman and Dr. Walter. | '''Waltman Walter syndrome''' is a rare genetic disorder characterized by a variety of symptoms including [[dysmorphic facial features]], [[intellectual disability]], and [[growth retardation]]. The syndrome is named after the two doctors who first described it, Dr. Waltman and Dr. Walter. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of Waltman Walter syndrome can vary greatly from person to person. However, some common symptoms include: | The symptoms of Waltman Walter syndrome can vary greatly from person to person. However, some common symptoms include: | ||
* [[Dysmorphic facial features]]: These can include a broad forehead, deep-set eyes, a prominent nose, and a small chin. | * [[Dysmorphic facial features]]: These can include a broad forehead, deep-set eyes, a prominent nose, and a small chin. | ||
* [[Intellectual disability]]: This can range from mild to severe and can affect a person's ability to learn and function in daily life. | * [[Intellectual disability]]: This can range from mild to severe and can affect a person's ability to learn and function in daily life. | ||
* [[Growth retardation]]: This can result in a person being shorter than average for their age and sex. | * [[Growth retardation]]: This can result in a person being shorter than average for their age and sex. | ||
== Causes == | == Causes == | ||
Waltman Walter 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 associated with Waltman Walter syndrome. | Waltman Walter 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 associated with Waltman Walter syndrome. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Waltman Walter syndrome is typically made based on the presence of characteristic symptoms and a genetic test confirming the presence of a mutation in the relevant gene. | The diagnosis of Waltman Walter syndrome is typically made based on the presence of characteristic symptoms and a genetic test confirming the presence of a mutation in the relevant gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Waltman Walter syndrome. Treatment is focused on managing the symptoms and improving the quality of life for those affected. This can include physical therapy, special education services, and other supportive care. | There is currently no cure for Waltman Walter syndrome. Treatment is focused on managing the symptoms and improving the quality of life for those affected. This can include physical therapy, special education services, and other supportive care. | ||
== See Also == | == See Also == | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
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* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Growth retardation]] | * [[Growth retardation]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
{{stub}} | {{stub}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 02:36, 4 April 2025
| Waltman Walter syndrome | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | Neurology, Ophthalmology |
| Symptoms | Headache, visual disturbances, nausea |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | |
| Risks | |
| Diagnosis | Clinical diagnosis, MRI |
| Differential diagnosis | Migraine, Cluster headache |
| Prevention | |
| Treatment | Medication, lifestyle changes |
| Medication | Analgesics, antiemetics |
| Prognosis | |
| Frequency | |
| Deaths | |
Waltman Walter syndrome is a rare genetic disorder characterized by a variety of symptoms including dysmorphic facial features, intellectual disability, and growth retardation. The syndrome is named after the two doctors who first described it, Dr. Waltman and Dr. Walter.
Symptoms and Signs[edit]
The symptoms of Waltman Walter syndrome can vary greatly from person to person. However, some common symptoms include:
- Dysmorphic facial features: These can include a broad forehead, deep-set eyes, a prominent nose, and a small chin.
- Intellectual disability: This can range from mild to severe and can affect a person's ability to learn and function in daily life.
- Growth retardation: This can result in a person being shorter than average for their age and sex.
Causes[edit]
Waltman Walter 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 associated with Waltman Walter syndrome.
Diagnosis[edit]
The diagnosis of Waltman Walter syndrome is typically made based on the presence of characteristic symptoms and a genetic test confirming the presence of a mutation in the relevant gene.
Treatment[edit]
There is currently no cure for Waltman Walter syndrome. Treatment is focused on managing the symptoms and improving the quality of life for those affected. This can include physical therapy, special education services, and other supportive care.
