What are the three cardinal features of Sotos syndrome?

Cardinal triad: (1) Facial gestalt (high forehead, sparse frontotemporal hair, down-slanting palpebral fissures, long narrow face, pointed chin); (2) Learning disability (mild-moderate in 90%); (3) Pre/postnatal overgrowth (height >2 SDS).

What NSD1 molecular change is most severe?

5q35 microdeletion (15% of Sotos): more severe intellectual disability, more features, and potential inclusion of additional genes; NSD1 intragenic mutation (80%): variable but generally milder; both cause autosomal dominant Sotos syndrome.

What is the cancer risk in Sotos syndrome?

Tumor risk is elevated (estimated 3-5% lifetime): sacrococcygeal teratoma, Wilms tumor, hepatocellular carcinoma, leukemia; unlike BWS, specific surveillance protocols are not universally recommended; annual physical exam is standard.

What cardiac defects are associated with Sotos syndrome?

Congenital heart disease in 13-22%: ASD, PDA, VSD, pulmonary stenosis; routine echocardiogram at diagnosis recommended; structural defects generally mild and do not define severity of the syndrome.

What behavioral characteristics are common in Sotos syndrome?

Tantrum behavior, irritability, anxiety, and ASD features in 20-50%; phobias and obsessive-compulsive tendencies; ADHD in 30%; relatively good social skills compared to other syndromic intellectual disabilities; behavioral therapy is effective.

Sotos Syndrome Overgrowth and NSD1 Gene Assessment

Assesses Sotos syndrome using the three cardinal features (facial gestalt, learning disability, overgrowth), NSD1 deletion vs mutation genotype-phenotype correlation, and tumor surveillance requirements.

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Frequently Asked Questions

What are the three cardinal features of Sotos syndrome?

What NSD1 molecular change is most severe?

What is the cancer risk in Sotos syndrome?

What cardiac defects are associated with Sotos syndrome?

What behavioral characteristics are common in Sotos syndrome?