Sotos syndrome

Symptoms

What are the main symptoms of Sotos syndrome?

Facial Features:

- Large forehead

- Down slanting eyes

- Long, narrow face

- Long chin

Overgrowth:

- Large head size (usually remains large throughout life)

- Longer/taller than other children in infancy and childhood

- Adult height is usually normal

Learning:

- Childhood developmental delay

- Intellectual disability, can be mild to severe

Other features:

- Behavioral problems (such as ADHD and autism)

- Heart abnormalities

- Curving of the spine

- Kidney abnormalities

- Seizures

References
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Are there earlier onset, later onset, or variant forms of Sotos syndrome?

What health problems should I look for in Sotos syndrome?

Any other diseases that look a lot like Sotos syndrome(phenocopies, differential diagnoses)?

Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of Sotos syndrome?

Variable expression or incomplete penetrance in Sotos syndrome ?

Are there earlier onset, later onset, or variant forms of Sotos syndrome?

All individuals with a missing piece or change in NSD1 will have Sotos syndrome. However, affected individuals may show different symptoms.

If you have questions about the variability in Sotos syndrome, speak to a genetic counselor or a medical geneticist.

References
What health problems should I look for in Sotos syndrome?

Babies with Sotos syndrome may be born with jaundice (yellowing of the skin), muscle weakness, and may not feed well. Most of the time these problems resolve without treatment.

Heart problems happen in about 20% of individuals at birth: they can range from mild to severe, with some requiring heart surgery to fix the problem.

Kidney problems happen in about 15% of individuals. The most common problem causes urine to flow in the reverse direction (from the bladder back to the kidney), and is usually diagnosed in infancy or childhood. If treated early, kidney damage is avoidable.

Seizures occur in about 25% of individuals. All seizure types have been seen, but can usually been controlled with medication.

Tumors occur in a small percentage of people with Sotos syndrome, many types of tumors have been reported.

References
Any other diseases that look a lot like Sotos syndrome(phenocopies, differential diagnoses)?

Weaver syndrome

Weaver syndrome is sometimes confused with Sotos syndrome because at birth these conditions look similar. Babies with Weaver syndrome are also usually large babies with abnormal appearing facial features and muscle weakness. In addition, both Sotos and Weaver syndrome are associated with developmental delay and learning disabilities. Additional features in Weaver syndrome include: permanently bent joints, especially the fingers, foot deformities, and small jaw.

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome can also be confused with Sotos syndrome because it also shows overgrowth throughout the whole body. Babies with Beckwith-Wiedemann syndrome may also have abnormally large tongues that stick out of their mouth. This can make feeding, breathing, and talking difficult. Individuals with Beckwith-Wiedmann syndrome are also at risk to develop certain types of tumors in childhood.

Speak to a genetic counselor or a medical geneticist if you have concerns about an overgrowth syndrome.

References
Is there one or two characteristic “odd” or “unusual” symptom or clinical feature of Sotos syndrome?

The three cardinal features of Sotos syndrome are all present in more than 90% of individuals:

1. Characteristic facial appearance (broad, prominent forehead, downslanting eyes, red cheeks, long narrow face, and a long chin).

2. Learning disabilities

3. Overgrowth

Speak to a genetic counselor or a medical geneticist to learn more about Sotos syndrome.

References
Variable expression or incomplete penetrance in Sotos syndrome ?

No one with a change in NSD1 has been found to be completely unaffected. It therefore this is a fully penetrant genetic disorder. However, individuals with Sotos syndrome may have different symptoms and therefore may be more or less severely affected than others. Sotos syndrome therefore has variable expressivity.

Speak to a genetic counselor or a medical geneticist to learn more about about the variability in Sotos syndrome.

References

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