Sotos SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About 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. In addition, the outside corners of the eyes may point downward (down-slanting palpebral fissures). This facial appearance is most notable in early childhood. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have an unusually large head. However, adult height is usually in the normal range.
Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified.
Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. Because many of the features of Sotos syndrome can be attributed to other conditions, many cases of this disorder are likely not properly diagnosed, so the true incidence may be closer to 1 in 5,000.
About 95 percent of Sotos syndrome cases occur in people with no history of the disorder in their family. Most of these cases result from new (de novo) mutations involving the NSD1 gene.
Reading Hospital Endocrinology & Diabetes Center Wyomissing
. Dr. Gabriely is rated as an Advanced provider by MediFind in the treatment of Sotos Syndrome. He is also highly rated in 59 other conditions, according to our data. His clinical expertise encompasses Low Blood Sugar, Hyperparathyroidism, Thyroid Cancer, and Anaplastic Thyroid Cancer. Dr. Gabriely is board certified in American Board Of Internal Medicine.
Diabetes And Endocrinology Center At Specialty Services Pavilion
Andjela Drincic is an Endocrinologist practicing medicine in Omaha, Nebraska. She has been practicing medicine for over 36 years. Dr. Drincic is rated as an Advanced provider by MediFind in the treatment of Sotos Syndrome. She is also highly rated in 30 other conditions, according to our data. Her clinical expertise encompasses Type 1 Diabetes (T1D), Pituitary Tumor, Hypogonadism, and Type 2 Diabetes (T2D).
Sanaa Choufani practices practicing medicine in Toronto, Canada. Ms. Choufani is rated as an Elite expert by MediFind in the treatment of Sotos Syndrome. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Sotos Syndrome, Weaver Syndrome, Macroglossia, and Beckwith-Wiedemann Syndrome.
Published Date: February 05, 2021
Published By: National Institutes of Health