Lissencephaly Syndrome, Norman-Roberts Type

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

Epidemiology

The prevalence is unknown.

Clinical description

Severe intellectual deficit, spasticity and epilepsy are also present.

Etiology

Mutations in the RELN gene (7q22) have been identified in some patients.

Genetic counseling

Transmission is autosomal recessive.