Vici syndrome: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Vici syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Vici syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Developmental delay]], [[hypotonia]], [[immunodeficiency]], [[cataracts]], [[cardiomyopathy]], [[corpus callosum]] agenesis | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[EFCAB7]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Supportive care]], [[symptomatic treatment]] | |||
| medication = | |||
| prognosis = Poor | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{Short description|A rare genetic disorder}} | {{Short description|A rare genetic disorder}} | ||
'''Vici syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[congenital]] anomalies and progressive [[neurological]] deterioration. It is inherited in an [[autosomal recessive]] pattern and is caused by mutations in the [[EFCAB7]] gene. | '''Vici syndrome''' is a rare [[genetic disorder]] characterized by a combination of [[congenital]] anomalies and progressive [[neurological]] deterioration. It is inherited in an [[autosomal recessive]] pattern and is caused by mutations in the [[EFCAB7]] gene. | ||
== Clinical features == | == Clinical features == | ||
Vici syndrome presents with a wide array of clinical features, which can vary in severity among affected individuals. The hallmark features include: | Vici syndrome presents with a wide array of clinical features, which can vary in severity among affected individuals. The hallmark features include: | ||
* [[Callosal agenesis]]: Absence or malformation of the [[corpus callosum]], the structure that connects the two hemispheres of the [[brain]]. | * [[Callosal agenesis]]: Absence or malformation of the [[corpus callosum]], the structure that connects the two hemispheres of the [[brain]]. | ||
* [[Cataracts]]: Clouding of the [[lens]] of the [[eye]], leading to impaired vision. | * [[Cataracts]]: Clouding of the [[lens]] of the [[eye]], leading to impaired vision. | ||
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* [[Hypopigmentation]]: Reduced pigmentation of the [[skin]], [[hair]], and [[eyes]]. | * [[Hypopigmentation]]: Reduced pigmentation of the [[skin]], [[hair]], and [[eyes]]. | ||
* [[Developmental delay]]: Delayed achievement of developmental milestones. | * [[Developmental delay]]: Delayed achievement of developmental milestones. | ||
== Genetics == | == Genetics == | ||
Vici syndrome is caused by mutations in the [[EFCAB7]] gene, which is located on [[chromosome]] 18. The disorder follows an [[autosomal recessive]] inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Parents of an affected child are typically [[carriers]] of the mutation, meaning they have one normal and one mutated copy of the gene but do not show symptoms of the disorder. | Vici syndrome is caused by mutations in the [[EFCAB7]] gene, which is located on [[chromosome]] 18. The disorder follows an [[autosomal recessive]] inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Parents of an affected child are typically [[carriers]] of the mutation, meaning they have one normal and one mutated copy of the gene but do not show symptoms of the disorder. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of Vici syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the [[EFCAB7]] gene. [[Magnetic resonance imaging]] (MRI) of the brain can reveal [[callosal agenesis]] and other structural abnormalities. | The diagnosis of Vici syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the [[EFCAB7]] gene. [[Magnetic resonance imaging]] (MRI) of the brain can reveal [[callosal agenesis]] and other structural abnormalities. | ||
== Management == | == Management == | ||
There is currently no cure for Vici syndrome, and management is primarily supportive and symptomatic. This may include: | There is currently no cure for Vici syndrome, and management is primarily supportive and symptomatic. This may include: | ||
* [[Physical therapy]] and [[occupational therapy]] to address developmental delays and improve motor skills. | * [[Physical therapy]] and [[occupational therapy]] to address developmental delays and improve motor skills. | ||
* [[Cardiology]] evaluation and management for [[cardiomyopathy]]. | * [[Cardiology]] evaluation and management for [[cardiomyopathy]]. | ||
* [[Ophthalmology]] evaluation for [[cataracts]] and other eye issues. | * [[Ophthalmology]] evaluation for [[cataracts]] and other eye issues. | ||
* [[Immunology]] consultation for managing [[immunodeficiency]]. | * [[Immunology]] consultation for managing [[immunodeficiency]]. | ||
== Prognosis == | == Prognosis == | ||
The prognosis for individuals with Vici syndrome is generally poor, with many affected individuals experiencing significant [[neurological]] and [[systemic]] complications. Life expectancy is often reduced, although the severity and progression of symptoms can vary widely. | The prognosis for individuals with Vici syndrome is generally poor, with many affected individuals experiencing significant [[neurological]] and [[systemic]] complications. Life expectancy is often reduced, although the severity and progression of symptoms can vary widely. | ||
== See Also == | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Autosomal recessive inheritance]] | * [[Autosomal recessive inheritance]] | ||
* [[Neurological disorder]] | * [[Neurological disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
Latest revision as of 06:39, 6 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
| Vici syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Developmental delay, hypotonia, immunodeficiency, cataracts, cardiomyopathy, corpus callosum agenesis |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the EFCAB7 gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care, symptomatic treatment |
| Medication | |
| Prognosis | Poor |
| Frequency | Rare |
| Deaths | |
A rare genetic disorder
Vici syndrome is a rare genetic disorder characterized by a combination of congenital anomalies and progressive neurological deterioration. It is inherited in an autosomal recessive pattern and is caused by mutations in the EFCAB7 gene.
Clinical features[edit]
Vici syndrome presents with a wide array of clinical features, which can vary in severity among affected individuals. The hallmark features include:
- Callosal agenesis: Absence or malformation of the corpus callosum, the structure that connects the two hemispheres of the brain.
- Cataracts: Clouding of the lens of the eye, leading to impaired vision.
- Cardiomyopathy: A disease of the heart muscle that can lead to heart failure.
- Immunodeficiency: Increased susceptibility to infections due to a weakened immune system.
- Hypopigmentation: Reduced pigmentation of the skin, hair, and eyes.
- Developmental delay: Delayed achievement of developmental milestones.
Genetics[edit]
Vici syndrome is caused by mutations in the EFCAB7 gene, which is located on chromosome 18. The disorder follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Parents of an affected child are typically carriers of the mutation, meaning they have one normal and one mutated copy of the gene but do not show symptoms of the disorder.
Diagnosis[edit]
The diagnosis of Vici syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the EFCAB7 gene. Magnetic resonance imaging (MRI) of the brain can reveal callosal agenesis and other structural abnormalities.
Management[edit]
There is currently no cure for Vici syndrome, and management is primarily supportive and symptomatic. This may include:
- Physical therapy and occupational therapy to address developmental delays and improve motor skills.
- Cardiology evaluation and management for cardiomyopathy.
- Ophthalmology evaluation for cataracts and other eye issues.
- Immunology consultation for managing immunodeficiency.
Prognosis[edit]
The prognosis for individuals with Vici syndrome is generally poor, with many affected individuals experiencing significant neurological and systemic complications. Life expectancy is often reduced, although the severity and progression of symptoms can vary widely.
