Sotos Syndrome: An Educational Post on a Rare Genetic Disorder
Hey so, to follow up on the last reblog I added to this post about my wife: I realize most of you probably haven't heard of Sotos Syndrome, so I thought I'd talk a little about what it is and how it affects her. I'll put a couple of links here, but also briefly cover what it is and how she experiences it. She's given me permission to discuss it, and y'all are welcome to ask questions. If I can't answer them, I'll tag her in to help.
Note: She is also diagnosed with hEDS and POTS. This will be relevant later.
Sotos syndrome (also known as cerebral gigantism) is a rare genetic disorder caused by a gene mutation. The disorder is characterized by exc
Sotos Syndrome is a rare condition resulting from a genetic mutation on chromosome 5 - specifically of the NSD1 gene. There are thought to be a wide variety of ways this gene mutation can occur and cause Sotos Syndrome, and the condition can manifest somewhat differently with different NSD1 mutations.
At the core of the disorder is rapid overgrowth in childhood; patients are taller and often heavier than their peers, and grow far faster. In some cases, this advanced growth timeline starts in the womb, and in other cases may start shortly after birth. Individuals with Sotos Syndrome typically have a larger cranial circumference than normal as well, though this often normalizes in adolescence or adulthood. The overgrowth almost always normalizes in adolescence or adulthood as well - patients usually reach a final height only slightly taller than would be expected of a healthy individual of the same sex and genetics. That is to say, the patient often ends up being on the tall end of normal, or a little taller, compared to other family members of the same sex.
Sotos Syndrome doesn't only cause rapid overgrowth; it affects bone development in several ways. Patients often have larger and heavier bones than average, large hands, and flat feet, as well as vertebral abnormalities (my wife suffers significant back pain due to several malformed vertebrae). Sotos Syndrome also almost always presents with specific facial features: a slight downward slant in the outer corners of the eyes, an enlarged forehead/brow bone, a pointed chin, a narrow face, thinner hair on the anterior (front) portion of the scalp, to name a few. These are usually most distinct when the patient is young, but typically some aspects are still noticeably present into adulthood (particularly the forehead and chin).
Children with Sotos Syndrome often experience developmental delays in a variety of areas, including speech/language, motor skills, social skills, and more. Some patients have intellectual disabilities, while others have normal intellectual and cognitive capabilities. Many have learning disorders such as ADHD, dyslexia, or dyscalculia. My wife has ADHD, dyslexia, and a communication issue (which we unfortunately don't have answers to from any doctor yet) that presents as fairly similar to aphasia. Some patients, especially as children, display "autistic-like behaviors" despite not actually having autism. My wife and I disagree on whether this is true of her (I, the actual autist of the relationship, think it is, but mildly). It can also cause anxiety (which she definitely has) and aggressive tendencies (which she couldn't possibly have less of).
Individuals with Sotos Syndrome often struggle with coordination and motor skills to varying degrees. Before knowing about her condition, I thought my wife was just the clumsiest person I'd ever met. As annoying as I'm sure that is for her, it also means that I often wind up with an accidental elbow to the face due to the combination of her lack of coordination and our size difference 🥲 Seizures and tremors are also a somewhat common problem. My wife has had a couple of seizures in the past, but typically only suffers from very occasional arm tremors. She also spontaneously loses her grip strength from time to time. I haven't seen this last one documented specifically as a symptom, but her neurologist says it's likely related. At least we have a good excuse to never own expensive glassware!
Another frequent symptom of Sotos Syndrome is joint laxity - an obvious overlap with EDS. I've been unable so far to find any documentation regarding the comorbidity of the two, but she has numerous EDS symptoms other than the joint issues, so our EDS specialist diagnosed it. She has hypotonia (reduced muscle tone) as well, a very common Sotos symptom. If she and a healthy woman lifted weights for the same amount of time, using the same regimen/diet/everything, she would see a fraction of the progress the other woman would. Her near-sightedness and mildly impaired hearing are also likely caused by this disorder, though EDS can impact hearing as well, and near-sightedness is not uncommon in general (and runs in her family, though strangely only in the women).
I'm gonna wrap this up for now, though there are many more things I could dive into about this condition, but I may edit and add more later when I'm less exhausted. I hope this has been educational, and again, please feel free to ask me/us anything! 💓
