L1 syndrome

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L1 syndrome
Animation of the cerebral aqueduct
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 | edit source]

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 | edit source]

The clinical manifestations of L1 syndrome can vary widely, but they often include:

Diagnosis[edit | edit source]

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 | edit source]

There is no cure for L1 syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:

Prognosis[edit | edit source]

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 | edit source]

Categories[edit | edit source]

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Contributors: Prab R. Tumpati, MD