Sotos syndrome is a rare genetic condition that causes excessive physical growth during the first two decades of life, starting from infancy and going into the teen years.
It affects males and females in equal numbers.
Occurs in all ethnic groups and has been detected throughout the world.
Cause
Mutations (abnormalities) in the NSD1 (nuclear receptor-binding SET domain protein 1) gene. Mutations in this gene have been identified in approximately 90% of affected patients (Sotos syndrome 1).
Mutations in the NFIX gene (nuclear factor I, X type) were identified in 5 patients with Sotos syndrome (Sotos syndrome 2). In 2015, a loss-of-function mutation in the APC2 (adenomatous polyposis coli 2) gene was reported in 2 siblings with some neural features of Sotos syndrome including intellectual disability, abnormal brain structure, and typical facial features, but no other features such as bone or heart abnormalities (Sotos syndrome 3). The parents were blood relatives (consanguineous).
The APC2 gene is specifically expressed in the nervous system, and is a crucial downstream gene of NSD1.
Mutations in the NSD1 gene affects the APC2 gene and results in the neural abnormalities.
Sotos syndrome is an autosomal dominant genetic condition. Dominant genetic disorders occur when only a single copy of an abnormal variant of a gene is necessary to cause a particular disease.
The abnormal variant gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual.
The risk of passing the abnormal variant gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.
Most people with Sotos syndrome have the NSD1 mutation as the result of a new mutation that was not inherited from a parent. When the parents are unaffected, the risk of having another child with the syndrome is very low (<1%).
The symptoms of Sotos syndrome can vary from person to person, even when they have the same NSD1 gene mutation.
Sotos syndrome 3 is an autosomal recessive condition.
Recessive genetic disorders occur when an individual inherits an abnormal variant of a gene from each parent. If an individual receives one normal gene and one abnormal variant gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
The risk for two carrier parents to both pass the abnormal variant gene and, therefore, have an affected child is 25% with each pregnancy.
The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%.
Difficult to concentrate / difficulty in concentrating/memory problems and/or learning difficulties?
Wide-set eyes (ocular hypertelorism)?
Down slanting of the eye lids and folds (palpebral features)?
Squinting eyes causing one of the eyes to turn inwards, outwards or upwards, while other eye looks forward and/or tilting head to one side and/or one eye is closed regularly when focusing (strabismus)?
Sensitivity to every day noise and/or ringing noise within and/or difficulty hearing (click one’s finger and see if baby/young child responds)?
Abnormal side-to-side (scoliosis) or front-to-back (kyphosis) curvature of the spine?
Non-progressive neurological disorder?
Regular and reoccurring chest infections?
Bone and joint movement problems and/or difficulty using arms and/or body and/or legs and/or lack of stamina and/or walking difficulties and/or crawling difficulties and/or rolling over difficulties?
Abnormalities of the penis (opening of penis in wrong place), testicles (failure of testicles to fall to right position), or vagina (Blockage of the vagina)/Underdevelopment or malformation of genitals and urinary tract?
Large hands and feet?
Complications /Information to beware of/General tips:
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Sotos syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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