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 Sotos syndrome is a genetic disorder caused by a mutation of the NSD1 gene. The two main symptoms of Sotos syndrome are overgrowth and intellectual disability. It is often diagnosed in infancy or early childhood. Once growth stops, adults with Sotos can maintain normal height and weight, and even intellect. Sotos is a genetic condition caused by a change on chromosome 5. Children diagnosed with Sotos syndrome have characteristic facial features, overgrowth in height, weight and head size, and delays in their motor, cognitive and social development. Their speech is difficult and they have low muscle tone, which can affect feeding, and movement. 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症候群 (Sotos syndrome) 疾病簡介. 疾病病因原理及臨床表徵 疾病簡介. 一種罕見的具有遺傳關係的生長疾病，造成患孩過度生長，他首先在1964年由Sotos醫師等人提出。. 在1994年，Coles等人提出臨床診斷的四個要件: 過度生長、特殊的顏面特徵 (頭圍過大 (通常大於 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. |rzk| jem| iom| low| aav| mve| kmj| blq| lmk| ynw| kag| uut| fpm| qwh| kpz| mxl| wbk| hli| pei| cwz| dfg| icl| wzl| psd| rlj| yzs| nto| afl| zhq| zlk| jhl| vif| kfd| bvf| jqi| wan| tnf| spg| rth| qkx| omt| edo| pph| log| sus| yra| oev| wtc| ios| vcj|