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Baraitser-Winter Syndrome

Baraitser-Winter Syndrome

Craniofacial appearance and magnetic resonance imaging (MRI) of an individual with BWS.

Baraitser-Winter Syndrome

BWS. T1-weighted MRI of a girl aged 6 months. The cortex in the front lobes is thickened.

What is Baraitser-Winter Syndrome?

Baraitser-Winter syndrome is a rare autosomal recessive disorder characterized by developmental delay, dysmorphic features, and multiple malformations involving the brain.

Symptoms

Children and people with these genes have short stature, an atypical facial appearance (including droopy eyelids), birth defects of the eye, moderate intellectual impairment, and epilepsy. Hearing loss usually occurs and can be progressive. Progressive joint stiffness and postnatal microcephaly may develop with time. Pachygyria with an anterio-posterior gradient is present in most cases.

Prevalence

Physicians and researchers worldwide have identified to date approximately 20 individuals with Baraitser-Winter syndrome.

Causes

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.