What is Sotos syndrome?
Sotos syndrome is a disease caused by mutations – or genetic changes – in the NSD1 gene. It is characterized by a distinctive shape of the face, developmental delays, and macrosomia.
How is Sotos syndrome diagnosed?
Suspected Diagnosis
Sotos syndrome is suspected with presentation of the following:
Genetic Diagnostics
The diagnosis of “Sotos syndrome” is confirmed by detection of a mutation – or genetic change – in the NSD1 gene.
What is the risk of cancer?
The risk of cancer is slightly increased at around 3%. Malignant diseases that have been described to date are tumors of the ovaries, neuroblastomas, and gangliomas (nerve tissue tumors), acute lymphatic leukemia (ALL), acute myeloid leukemia (AML), and cancer of the liver, stomach, testicles, and lungs.
Besides a slightly increased risk of cancer, a large number of symptoms can manifest as part of Sotos syndrome. They are classified as cardinal symptoms, major symptoms, and associated symptoms.
Cardinal Symptoms
They are present in ≥ 90% of persons with Sotos syndrome.
Major Symptoms
The following are present in 15-89% of persons with Sotos syndrome.
Associated Symptoms
The following symptoms can occur in 2-15% of patients:
What causes Sotos syndrome?
Sotos syndrome is caused by mutations – or genetic changes – in the NSD1 gene. This gene encodes for the NSD1 protein, which is necessary for reading and amplifying DNA – the genetic material – in our body,
Now if the NSD1 gene is altered, the NSD1 protein will not be produced properly and will no longer be able to perform its normal function. This can result in the defective development of various structures in our body.
Sotos syndrome occurs in approximately one out of 14,000 live births and can be passed on by parents to their children. In these cases, it is inherited as an autosomal dominant disease. However, around 95% of cases involve a spontaneous or new mutation, called a de novo mutation.
Is there a treatment?
In light of the large number of potential manifestations, treatment should always be symptom-orientated and involve different specialist disciplines working together.
Surveillance Recommendations for the Early Detection of Cancer
Surveillance Recommendations
There are no standard surveillance recommendations to date. Patients with Sotos syndrome should undergo regular medical examinations (e.g. once a year), which should include the following:
If any anomalies are found, other examinations should be conducted as needed and the patient transferred to specialists.
Patients should be informed about their slightly increased risk of cancer. Specific cancer surveillance is not recommended.
Self-Care and Support
What should I pay special attention to?
You should see a doctor as soon as changes in the spinal column or joints occur. Moreover, restrictions or changes affecting sight and hearing should be noted and reported to a doctor as well. You should likewise go to a doctor right away if new anomalies or complaints develop.
Support Groups and Additional Information
Unfortunately, we are as yet unaware of any existing support groups for patients with Sotos syndrome. We will add new information as it becomes available.