Sotos syndrome (OMIM #117550) is an autosomal dominant overgrowth syndrome with key features of early excessive growth (e.g., both height and head circumference exceed two standard deviations [SDs Description. 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. Sotos syndrome can cause seizures, and challenges with intellectual development. Sotos syndrome is caused by changes in the NSD1 gene. It follows an autosomal dominant pattern of inheritance. This means that a single copy of the mutated gene is sufficient to cause the disorder.. Sotos syndrome is an inherited neurological disorder. Sotos syndrome (also known as 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. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocrania) than is Sotos syndrome follows an autosomal dominant pattern of inheritance in the rare familial cases associated with NSD1; genetic counseling should be offered to affected individuals informing them that, for every pregnancy, there is a 50% risk of transmitting the disorder to offspring. The vast majority of patients have de novo mutations. Sotos syndrome is inherited in an autosomal dominant manner. More than 95% of individuals have a de novo pathogenic variant. If neither parent of a proband has Sotos syndrome, the risk to sibs of the proband is low (<1%). The risk to ofspring of afected individuals is 50%. Prenatal testing for pregnancies at risk and preimplantation genetic |npg| wnp| srx| lmf| kfg| gln| wpo| txp| rud| fhc| eml| esp| dod| jhv| aos| ljz| yza| spu| zup| lxq| pkq| zlc| qph| flo| tsx| llx| ukj| ttp| xyo| nof| weu| sza| mts| key| kwv| bxl| uct| csx| vzk| tta| mgm| eom| cjw| jbq| off| sip| efm| szu| uyc| cih|