What chromosome is affected in Sotos syndrome?
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What chromosome is affected in Sotos syndrome?
Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation in the NSD1 gene on chromosome 5. It is characterized by excessive physical growth during the first few years of life.
How is Sotos syndrome inherited?
New genetic mutations happen randomly. While less likely to occur, children can inherit the condition if one parent carries the mutated gene and passes it to their child (autosomal dominant); if a parent has Sotos syndrome, any child born to them will have a 50% chance of inheriting it.
What is reverse Sotos syndrome?
Sotos syndrome is a disorder of childhood overgrowth caused by NSD1 deletions. Duplications involving NSD1 cause a ‘reverse Sotos syndrome’ phenotype characterised by short stature and microcephaly. The contrasting phenotypes of NSD1 deletions and duplications suggest a dose effect.
What are the symptoms of Sotos syndrome?
Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin.
Can Sotos syndrome be detected before birth?
If there is an affected member of the family, a mutation in a proband should be identified before prenatal diagnosis is performed. However, more than 95% of cases of Sotos syndrome are secondary to a de novo mutation, so this is only possible in a very small percentage of cases.
How do you test for Sotos syndrome?
Diagnosis. A Sotos syndrome diagnosis is made early in life, either in infancy or in the first few years of life. Newborn testing does not include testing for Sotos, but doctors will test for it when symptoms are noticed. It may take months or years for testing to occur and for symptoms to be pronounced.
What are Soto seizures?
The seizure phenotype in Sotos syndrome most commonly involves staring spells, afebrile tonic‐clonic seizures or febrile convulsions; however, other seizure types may occur. Seizures are typically well‐controlled with medication, but drug‐resistant epilepsy occurs in a minority.
How can I help my child with Soto syndrome?
Treatment options for Sotos syndrome
- behavioral or occupational therapy.
- speech therapy.
- counseling.
- medications to manage ADHD, irritability, or aggressiveness.
- hearing aids for hearing loss.
- glasses to correct vision problems.
