Norman–Roberts syndrome

Alternate names

LIS2; Norman Roberts lissencephaly syndrome; Lissencephaly syndrome Norman-Roberts type

Definition

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

Mutations in the RELN gene have been identified in some affected individuals.

Inheritance

Autosomal recessive inheritance, a 25% chance

This condition is inherited in an autosomal recessive fashion.

Symptoms

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

• NIH info on Norman–Roberts syndrome

Norman–Roberts syndrome is a rare disease.

Norman–Roberts syndrome Resources
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