Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Abnormalities, Multiple » Sotos Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Chromosome Disorders » Sotos Syndrome
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Chromosome Disorders » Sotos Syndrome
Description
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome. MeSH
Hierarchy View
Hierarchy Tree View
UMLS Data
YOU AGREE THAT THE INFORMATION PROVIDED ON THIS WEBSITE IS PROVIDED “AS IS”, WITHOUT ANY WARRANTY OF ANY KIND, EXPRESSED OR IMPLIED, INCLUDING WITHOUT LIMITATION WARRANTIES OF MERCHANTABILITY OR FITNESS FOR ANY PARTICULAR PURPOSE, OR NON-INFRINGEMENT OF ANY THIRD-PARTY PATENT, COPYRIGHT, OR ANY OTHER THIRD-PARTY RIGHT. IN NO EVENT SHALL THE CREATORS OF THE WEBSITE OR WASHINGTON UNIVERSITY BE LIABLE FOR ANY DIRECT, INDIRECT, SPECIAL, OR CONSEQUENTIAL DAMAGES ARISING OUT OF OR IN ANY WAY CONNECTED WITH THE WEBSITE, THE USE OF THE WEBSITE, OR THIS AGREEMENT, WHETHER IN BREACH OF CONTRACT, TORT OR OTHERWISE, EVEN IF SUCH PARTY IS ADVISED OF THE POSSIBILITY OF SUCH DAMAGES.
