Gustavson syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Gustavson syndrome | |||
| image = [[File:X-linked_recessive_(2).svg|200px]] | |||
| alt = X-linked recessive inheritance pattern | |||
| caption = X-linked recessive inheritance pattern | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = Intellectual disability, [[seizures]], [[hypotonia]], [[microcephaly]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = Other forms of [[intellectual disability]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Supportive care]], [[anticonvulsants]] | |||
| medication = | |||
| prognosis = Varies, generally poor | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Gustavson syndrome''' is a rare [[genetic disorder]] characterized by [[intellectual disability]], [[hearing loss]], and distinct facial features. It was first described by Swedish physician P. Gustavson in 1986, hence the name. The syndrome is also known as '''Gustavson's Syndrome''' or '''Gustavson's Mental Retardation Syndrome'''. | '''Gustavson syndrome''' is a rare [[genetic disorder]] characterized by [[intellectual disability]], [[hearing loss]], and distinct facial features. It was first described by Swedish physician P. Gustavson in 1986, hence the name. The syndrome is also known as '''Gustavson's Syndrome''' or '''Gustavson's Mental Retardation Syndrome'''. | ||
==Etiology== | ==Etiology== | ||
The exact cause of Gustavson syndrome is unknown. However, it is believed to be a [[genetic disorder]] inherited in an [[autosomal recessive]] manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to develop the syndrome. | The exact cause of Gustavson syndrome is unknown. However, it is believed to be a [[genetic disorder]] inherited in an [[autosomal recessive]] manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to develop the syndrome. | ||
==Symptoms== | ==Symptoms== | ||
The primary symptoms of Gustavson syndrome include [[intellectual disability]], [[hearing loss]], and distinct facial features such as a prominent forehead, wide-set eyes, and a thin upper lip. Other symptoms may include [[seizures]], [[microcephaly]] (small head size), and [[hypotonia]] (low muscle tone). | The primary symptoms of Gustavson syndrome include [[intellectual disability]], [[hearing loss]], and distinct facial features such as a prominent forehead, wide-set eyes, and a thin upper lip. Other symptoms may include [[seizures]], [[microcephaly]] (small head size), and [[hypotonia]] (low muscle tone). | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Gustavson syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing may be used to confirm the diagnosis and identify the defective gene. | Diagnosis of Gustavson syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing may be used to confirm the diagnosis and identify the defective gene. | ||
==Treatment== | ==Treatment== | ||
There is currently no cure for Gustavson syndrome. Treatment is symptomatic and supportive, and may include [[physical therapy]], [[speech therapy]], and [[occupational therapy]] to help improve the individual's quality of life. | There is currently no cure for Gustavson syndrome. Treatment is symptomatic and supportive, and may include [[physical therapy]], [[speech therapy]], and [[occupational therapy]] to help improve the individual's quality of life. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Gustavson syndrome varies. 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 Gustavson syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications associated with the syndrome. | ||
==See also== | ==See also== | ||
* [[List of genetic disorders]] | * [[List of genetic disorders]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Hearing loss]] | * [[Hearing loss]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 03:55, 6 April 2025
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| Gustavson syndrome | |
|---|---|
.svg)
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, seizures, hypotonia, microcephaly |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | |
| Causes | Genetic mutation |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Other forms of intellectual disability |
| Prevention | Genetic counseling |
| Treatment | Supportive care, anticonvulsants |
| Medication | |
| Prognosis | Varies, generally poor |
| Frequency | Rare |
| Deaths | |
Gustavson syndrome is a rare genetic disorder characterized by intellectual disability, hearing loss, and distinct facial features. It was first described by Swedish physician P. Gustavson in 1986, hence the name. The syndrome is also known as Gustavson's Syndrome or Gustavson's Mental Retardation Syndrome.
Etiology[edit]
The exact cause of Gustavson syndrome is unknown. However, it is believed to be a genetic disorder inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, to develop the syndrome.
Symptoms[edit]
The primary symptoms of Gustavson syndrome include intellectual disability, hearing loss, and distinct facial features such as a prominent forehead, wide-set eyes, and a thin upper lip. Other symptoms may include seizures, microcephaly (small head size), and hypotonia (low muscle tone).
Diagnosis[edit]
Diagnosis of Gustavson syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing may be used to confirm the diagnosis and identify the defective gene.
Treatment[edit]
There is currently no cure for Gustavson syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and occupational therapy to help improve the individual's quality of life.
Prognosis[edit]
The prognosis for individuals with Gustavson syndrome varies. Some individuals may have a normal lifespan, while others may have a shortened lifespan due to complications associated with the syndrome.
See also[edit]
| Genetic disorders relating to deficiencies of transcription factor or coregulators | ||||||||||||||||||||||||||||||||||
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NIH genetic and rare disease info[edit]
Gustavson syndrome is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Gustavson syndrome
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