L1 syndrome: Difference between revisions
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[[File:Cerebral_aqueduct_-_animation.gif| | {{SI}} | ||
{{Infobox medical condition | |||
| name = L1 syndrome | |||
| image = [[File:Cerebral_aqueduct_-_animation.gif|alt=Animation of the cerebral aqueduct]] | |||
| caption = Animation of the cerebral aqueduct, which is affected in L1 syndrome | |||
| synonyms = CRASH syndrome, X-linked hydrocephalus, MASA syndrome | |||
| pronounce = | |||
| specialty = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Hydrocephalus]], [[adducted thumbs]], [[spasticity]], [[intellectual disability]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = Mutations in the [[L1CAM]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[MRI]] | |||
| differential = Other causes of [[hydrocephalus]] | |||
| treatment = [[Surgical shunt]], [[physical therapy]], [[occupational therapy]] | |||
| medication = | |||
| prognosis = Variable, depending on severity | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''L1 syndrome''' is a group of related [[genetic disorders]] caused by mutations in the ''L1CAM'' gene, which is located on the X chromosome. These disorders primarily affect the [[nervous system]] and are characterized by a range of neurological and developmental abnormalities. | |||
==Genetics== | ==Genetics== | ||
L1 syndrome is inherited in an [[X-linked recessive]] pattern. This means that the gene responsible for the condition is located on the X chromosome, and the disorder predominantly affects males. Females can be carriers of the mutation and may exhibit mild symptoms due to [[X-inactivation]]. | L1 syndrome is inherited in an [[X-linked recessive]] pattern. This means that the gene responsible for the condition is located on the X chromosome, and the disorder predominantly affects males. Females can be carriers of the mutation and may exhibit mild symptoms due to [[X-inactivation]]. | ||
==Clinical Features== | ==Clinical Features== | ||
The clinical manifestations of L1 syndrome can vary widely, but they often include: | The clinical manifestations of L1 syndrome can vary widely, but they often include: | ||
* [[Hydrocephalus]]: An accumulation of cerebrospinal fluid within the brain, leading to increased intracranial pressure. | * [[Hydrocephalus]]: An accumulation of cerebrospinal fluid within the brain, leading to increased intracranial pressure. | ||
* [[Adducted thumbs]]: A condition where the thumbs are held in a flexed position across the palm. | * [[Adducted thumbs]]: A condition where the thumbs are held in a flexed position across the palm. | ||
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* [[Intellectual disability]]: Varying degrees of cognitive impairment. | * [[Intellectual disability]]: Varying degrees of cognitive impairment. | ||
* [[Agenesis of the corpus callosum]]: Partial or complete absence of the corpus callosum, the structure that connects the two hemispheres of the brain. | * [[Agenesis of the corpus callosum]]: Partial or complete absence of the corpus callosum, the structure that connects the two hemispheres of the brain. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of L1 syndrome is typically based on clinical evaluation, family history, and genetic testing to identify mutations in the ''L1CAM'' gene. [[Prenatal diagnosis]] is also possible through genetic testing of fetal cells obtained via [[amniocentesis]] or [[chorionic villus sampling]]. | Diagnosis of L1 syndrome is typically based on clinical evaluation, family history, and genetic testing to identify mutations in the ''L1CAM'' gene. [[Prenatal diagnosis]] is also possible through genetic testing of fetal cells obtained via [[amniocentesis]] or [[chorionic villus sampling]]. | ||
==Management== | ==Management== | ||
There is no cure for L1 syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include: | There is no cure for L1 syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include: | ||
* [[Surgical intervention]] for hydrocephalus, such as the placement of a [[ventriculoperitoneal shunt]]. | * [[Surgical intervention]] for hydrocephalus, such as the placement of a [[ventriculoperitoneal shunt]]. | ||
* [[Physical therapy]] and [[occupational therapy]] to improve motor function and daily living skills. | * [[Physical therapy]] and [[occupational therapy]] to improve motor function and daily living skills. | ||
* [[Special education]] services to address intellectual disabilities. | * [[Special education]] services to address intellectual disabilities. | ||
* [[Orthopedic surgery]] to correct adducted thumbs and other skeletal abnormalities. | * [[Orthopedic surgery]] to correct adducted thumbs and other skeletal abnormalities. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with L1 syndrome varies depending on the severity of the symptoms. Early intervention and supportive care can improve the quality of life for affected individuals. | The prognosis for individuals with L1 syndrome varies depending on the severity of the symptoms. Early intervention and supportive care can improve the quality of life for affected individuals. | ||
==See also== | |||
== | |||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[X-linked recessive inheritance]] | * [[X-linked recessive inheritance]] | ||
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* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Agenesis of the corpus callosum]] | * [[Agenesis of the corpus callosum]] | ||
==Categories== | ==Categories== | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:X-linked recessive disorders]] | [[Category:X-linked recessive disorders]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 02:37, 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
| L1 syndrome | |
|---|---|
| |
| Synonyms | CRASH syndrome, X-linked hydrocephalus, MASA syndrome |
| Pronounce | |
| Specialty | Neurology, Genetics |
| Symptoms | Hydrocephalus, adducted thumbs, spasticity, intellectual disability |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the L1CAM gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, MRI |
| Differential diagnosis | Other causes of hydrocephalus |
| Prevention | N/A |
| Treatment | Surgical shunt, physical therapy, occupational therapy |
| Medication | |
| Prognosis | Variable, depending on severity |
| Frequency | Rare |
| Deaths | |
L1 syndrome is a group of related genetic disorders caused by mutations in the L1CAM gene, which is located on the X chromosome. These disorders primarily affect the nervous system and are characterized by a range of neurological and developmental abnormalities.
Genetics[edit]
L1 syndrome is inherited in an X-linked recessive pattern. This means that the gene responsible for the condition is located on the X chromosome, and the disorder predominantly affects males. Females can be carriers of the mutation and may exhibit mild symptoms due to X-inactivation.
Clinical Features[edit]
The clinical manifestations of L1 syndrome can vary widely, but they often include:
- Hydrocephalus: An accumulation of cerebrospinal fluid within the brain, leading to increased intracranial pressure.
- Adducted thumbs: A condition where the thumbs are held in a flexed position across the palm.
- Spastic paraplegia: A form of paraplegia characterized by increased muscle tone and stiffness.
- Intellectual disability: Varying degrees of cognitive impairment.
- Agenesis of the corpus callosum: Partial or complete absence of the corpus callosum, the structure that connects the two hemispheres of the brain.
Diagnosis[edit]
Diagnosis of L1 syndrome is typically based on clinical evaluation, family history, and genetic testing to identify mutations in the L1CAM gene. Prenatal diagnosis is also possible through genetic testing of fetal cells obtained via amniocentesis or chorionic villus sampling.
Management[edit]
There is no cure for L1 syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:
- Surgical intervention for hydrocephalus, such as the placement of a ventriculoperitoneal shunt.
- Physical therapy and occupational therapy to improve motor function and daily living skills.
- Special education services to address intellectual disabilities.
- Orthopedic surgery to correct adducted thumbs and other skeletal abnormalities.
Prognosis[edit]
The prognosis for individuals with L1 syndrome varies depending on the severity of the symptoms. Early intervention and supportive care can improve the quality of life for affected individuals.
See also[edit]
- Genetic disorder
- X-linked recessive inheritance
- Hydrocephalus
- Spastic paraplegia
- Intellectual disability
- Agenesis of the corpus callosum
Categories[edit]
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