Alwadei syndrome: Difference between revisions
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{{SI}}<br> | |||
{{Infobox medical condition | |||
| name = Alwadei syndrome | |||
| image = [[File:Autorecessive.svg|150px]] | |||
| image_size = | |||
| alt = | |||
| caption = Alwadei syndrome is inherited in an [[autosomal recessive]] manner | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Intellectual disability]], [[developmental delay]], [[seizures]], [[microcephaly]], [[dysmorphic features]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = Mutations in the [[LARP7]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Supportive care]], [[symptomatic treatment]] | |||
| medication = | |||
| prognosis = | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{Short description|A rare genetic disorder}} | {{Short description|A rare genetic disorder}} | ||
'''Alwadei syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[neurological]], [[developmental]], and [[physical abnormalities]]. It is inherited in an [[autosomal recessive]] pattern, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected by the disorder. | '''Alwadei syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[neurological]], [[developmental]], and [[physical abnormalities]]. It is inherited in an [[autosomal recessive]] pattern, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected by the disorder. | ||
==Genetics== | ==Genetics== | ||
Alwadei syndrome is caused by mutations in a specific gene, which has yet to be fully identified and characterized. The inheritance pattern is [[autosomal recessive]], indicating that both parents of an affected individual are carriers of one copy of the mutated gene but typically do not show symptoms of the disorder themselves. | Alwadei syndrome is caused by mutations in a specific gene, which has yet to be fully identified and characterized. The inheritance pattern is [[autosomal recessive]], indicating that both parents of an affected individual are carriers of one copy of the mutated gene but typically do not show symptoms of the disorder themselves. | ||
[[File:Autorecessive.svg|thumb|right|Diagram illustrating autosomal recessive inheritance.]] | [[File:Autorecessive.svg|thumb|right|Diagram illustrating autosomal recessive inheritance.]] | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with Alwadei syndrome may present with a variety of symptoms, which can include: | Individuals with Alwadei syndrome may present with a variety of symptoms, which can include: | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
| Line 18: | Line 37: | ||
* Distinctive facial features | * Distinctive facial features | ||
* [[Growth retardation]] | * [[Growth retardation]] | ||
The severity and combination of symptoms can vary widely among affected individuals. | The severity and combination of symptoms can vary widely among affected individuals. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Alwadei syndrome is based on clinical evaluation, family history, and genetic testing. Genetic testing can confirm the presence of mutations associated with the syndrome, aiding in diagnosis and genetic counseling. | Diagnosis of Alwadei syndrome is based on clinical evaluation, family history, and genetic testing. Genetic testing can confirm the presence of mutations associated with the syndrome, aiding in diagnosis and genetic counseling. | ||
==Management== | ==Management== | ||
There is currently no cure for Alwadei syndrome. Management focuses on symptomatic treatment and supportive care, which may include: | There is currently no cure for Alwadei syndrome. Management focuses on symptomatic treatment and supportive care, which may include: | ||
* [[Physical therapy]] to improve muscle tone and motor skills | * [[Physical therapy]] to improve muscle tone and motor skills | ||
* [[Occupational therapy]] | * [[Occupational therapy]] | ||
* [[Speech therapy]] | * [[Speech therapy]] | ||
* [[Anticonvulsant]] medications to control seizures | * [[Anticonvulsant]] medications to control seizures | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Alwadei syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. Early intervention and supportive therapies can improve quality of life and developmental outcomes. | The prognosis for individuals with Alwadei syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. Early intervention and supportive therapies can improve quality of life and developmental outcomes. | ||
==Related pages== | ==Related pages== | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Autosomal recessive inheritance]] | * [[Autosomal recessive inheritance]] | ||
* [[Developmental delay]] | * [[Developmental delay]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 13:17, 4 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Alwadei syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Intellectual disability, developmental delay, seizures, microcephaly, dysmorphic features |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Mutations in the LARP7 gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care, symptomatic treatment |
| Medication | |
| Prognosis | |
| Frequency | Rare |
| Deaths | |
A rare genetic disorder
Alwadei syndrome is a rare genetic disorder characterized by a combination of neurological, developmental, and physical abnormalities. It is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected by the disorder.
Genetics[edit]
Alwadei syndrome is caused by mutations in a specific gene, which has yet to be fully identified and characterized. The inheritance pattern is autosomal recessive, indicating that both parents of an affected individual are carriers of one copy of the mutated gene but typically do not show symptoms of the disorder themselves.
Clinical Features[edit]
Individuals with Alwadei syndrome may present with a variety of symptoms, which can include:
- Developmental delay
- Intellectual disability
- Seizures
- Hypotonia (reduced muscle tone)
- Distinctive facial features
- Growth retardation
The severity and combination of symptoms can vary widely among affected individuals.
Diagnosis[edit]
Diagnosis of Alwadei syndrome is based on clinical evaluation, family history, and genetic testing. Genetic testing can confirm the presence of mutations associated with the syndrome, aiding in diagnosis and genetic counseling.
Management[edit]
There is currently no cure for Alwadei syndrome. Management focuses on symptomatic treatment and supportive care, which may include:
- Physical therapy to improve muscle tone and motor skills
- Occupational therapy
- Speech therapy
- Anticonvulsant medications to control seizures
Prognosis[edit]
The prognosis for individuals with Alwadei syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. Early intervention and supportive therapies can improve quality of life and developmental outcomes.
