A lissencephaly disorder occurs in just 1.2 of 100,000 births.
It can co-occur with other rare syndromes; punch in 2 includeshydrocephalus(fluid on the brain).
Treatment is focused on improving nutrition and managing seizures and other symptoms.
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The severity of symptoms can also vary.
Genitalia can be atypical, as can fingers and toes.
Diagnosis
Prenatal diagnosis of lissencephaly is difficult but possible.
Changes in the fetal brain structure can be visible onultrasoundafter about 24 weeks of pregnancy.
The first symptom may be the onset of seizures.
Brain imaging and other tests can confirm a lissencephaly diagnosis in infants.
Some children may have near-normal development and intelligence, though this is usually the exception.
Keep in mind that research continues into the causes and treatment of lissencephaly.
Summary
Lissencephaly leads to a smoother brain when compared to typical folds that occur during fetal development.
Researchers continue to identify more genes involved with the disorder.
Talk with your healthcare team about the diagnosis and a treatment plan for lissencephaly.
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