Norman–Roberts syndrome
Alternate names[edit | edit source]
LIS2; Norman Roberts lissencephaly syndrome; Lissencephaly syndrome Norman-Roberts type
Definition[edit | edit source]
Lissencephaly 2 (Norman Roberts lissencephaly syndrome) is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism).
Cause[edit | edit source]
Mutations in the RELN gene have been identified in some affected individuals.
Inheritance[edit | edit source]
This condition is inherited in an autosomal recessive fashion.
Symptoms[edit | edit source]
Abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone (hypertonia), exaggerated reflexes (hyperreflexia), and severe growth failure.
NIH genetic and rare disease info[edit source]
Norman–Roberts syndrome is a rare disease.
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