Clinical Characteristics

The main clinical features (present in ≥90% individuals) that characterise Sotos syndrome are:

  1. Increased growth. Individuals with Sotos syndrome are usually tall and /or have a large head circumference (known as macrocephaly). We define growth as being increased if it is greater than two standard deviations above the mean which roughly equates to the 98th centile on the growth charts.
  2. Intellectual disability. This is variable in Sotos syndrome and ranges from mild through to severe with a moderate intellectual disability most frequently reported.
  3. Characteristic facial appearance. Typically children and adults with Sotos syndrome have a prominent forehead, high hairline, down slanting palpebral fissures (describing the slope of the eyes) and, in early childhood, flushed cheeks. In childhood the chin is often pointed whereas it is tall and prominent in adulthood.

Other major clinical associations, reported in ≥15% of individuals, include neonatal medical issues (including jaundice, hypotonia and poor feeding), kyphoscoliosis, join laxity, cardiac issues, renal anomalies and seizures.