Sotos syndrome (Cerebral Gigantism syndrome)

Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features.

The diagnosis is usually suspected after birth because of

* Excessive height and occipitifrontal circumference

* Advanced bone age

* Neonatal complications including hypotonia, feeding difficulty, facial gestalt

* Other abnormalities including scoliosis, Cardiac & genitourinary anomalies

* Brisk deep tendon reflexes

* Seizures

* Delayed cognitive and motor developments

* Speech delay

* Increased risk of tumors in later life

* Clumsiness and poor coordination

* Attention deficit and placid behaviour

Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases.

Treatment

Early in the childhood, programs including infant stimulation, occupational therapy, speech therapy, and adaptive physical education play a significant role in the nurturing of a child with Sotos syndrome. Later, some children participate in regular classrooms with support and some others are enrolled in classes for appropriate education.

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