Norman–Roberts syndrome

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Obesity, Sleep & Internal medicine
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Norman–Roberts syndrome
Synonyms	Lissencephaly type 1, Lissencephaly with cerebellar hypoplasia
Pronounce	N/A
Specialty	N/A
Symptoms	Severe intellectual disability, seizures, hypotonia, microcephaly, cerebellar hypoplasia
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Mutations in the RELN gene
Risks	Family history of the condition
Diagnosis	Genetic testing, MRI
Differential diagnosis	Other forms of lissencephaly, Miller-Dieker syndrome
Prevention	N/A
Treatment	Supportive care, physical therapy, occupational therapy, anticonvulsants
Medication	N/A
Prognosis	Poor, with significant developmental delays and neurological impairment
Frequency	Rare
Deaths	N/A

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

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.

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