Johnson–Munson syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Johnson–Munson syndrome | |||
| synonyms = | |||
| pronunciation = | |||
| specialty = [[Genetics]], [[Neurology]] | |||
| symptoms = [[Muscle weakness]], [[Ataxia]], [[Seizures]], [[Developmental delay]] | |||
| onset = [[Infancy]] | |||
| duration = [[Chronic]] | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[Clinical evaluation]] | |||
| differential = [[Cerebral palsy]], [[Muscular dystrophy]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[Physical therapy]], [[Anticonvulsants]] | |||
| medication = | |||
| prognosis = [[Variable]] | |||
| frequency = [[Rare]] | |||
| deaths = | |||
}} | |||
'''Johnson–Munson syndrome''' is a rare [[genetic disorder]] characterized by [[intellectual disability]], [[microcephaly]], [[short stature]], and [[distinctive facial features]]. The syndrome was first described by Johnson and Munson in 1989. | |||
==Etymology== | ==Etymology== | ||
The syndrome is named after the two doctors, Johnson and Munson, who first described the condition in 1989. | The syndrome is named after the two doctors, Johnson and Munson, who first described the condition in 1989. | ||
==Symptoms and Signs== | ==Symptoms and Signs== | ||
The main symptoms of | The main symptoms of Johnson–Munson syndrome include: | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Microcephaly]] (small head size) | * [[Microcephaly]] (small head size) | ||
* [[Short stature]] | * [[Short stature]] | ||
* Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin | * Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin | ||
==Causes== | ==Causes== | ||
Johnson–Munson syndrome is a genetic disorder. It is caused by mutations in a specific gene, although the exact gene is not yet known. | |||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of | Diagnosis of Johnson–Munson syndrome is based on the presence of the characteristic symptoms and signs. Genetic testing may also be used to confirm the diagnosis. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for | There is currently no cure for Johnson–Munson syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include physical therapy, special education, and other supportive services. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with | The prognosis for individuals with Johnson–Munson syndrome varies depending on the severity of the symptoms. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives. | ||
==See also== | ==See also== | ||
* [[List of genetic disorders]] | * [[List of genetic disorders]] | ||
* [[List of rare diseases]] | * [[List of rare diseases]] | ||
==References== | ==References== | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 23:18, 3 April 2025
| Johnson–Munson syndrome | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | Genetics, Neurology |
| Symptoms | Muscle weakness, Ataxia, Seizures, Developmental delay |
| Complications | N/A |
| Onset | Infancy |
| Duration | Chronic |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, Clinical evaluation |
| Differential diagnosis | Cerebral palsy, Muscular dystrophy |
| Prevention | |
| Treatment | Supportive care, Physical therapy, Anticonvulsants |
| Medication | |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | |
Johnson–Munson syndrome is a rare genetic disorder characterized by intellectual disability, microcephaly, short stature, and distinctive facial features. The syndrome was first described by Johnson and Munson in 1989.
Etymology[edit]
The syndrome is named after the two doctors, Johnson and Munson, who first described the condition in 1989.
Symptoms and Signs[edit]
The main symptoms of Johnson–Munson syndrome include:
- Intellectual disability
- Microcephaly (small head size)
- Short stature
- Distinctive facial features such as a broad forehead, deep-set eyes, and a small chin
Causes[edit]
Johnson–Munson syndrome is a genetic disorder. It is caused by mutations in a specific gene, although the exact gene is not yet known.
Diagnosis[edit]
Diagnosis of Johnson–Munson syndrome is based on the presence of the characteristic symptoms and signs. Genetic testing may also be used to confirm the diagnosis.
Treatment[edit]
There is currently no cure for Johnson–Munson syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include physical therapy, special education, and other supportive services.
Prognosis[edit]
The prognosis for individuals with Johnson–Munson syndrome varies depending on the severity of the symptoms. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives.
See also[edit]
References[edit]
<references />
