Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17 years since disruption of NSD1 was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 SD and men +0.5 SD. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals.

中文翻译：

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成年期 Sotos 综合征的表型：对 44 人的回顾。

Sotos 综合征是一种由 NSD1 致病变异引起的过度生长智力障碍 (OGID) 综合征，其特征是独特的面部外观、智力障碍、身材高大和/或大头畸形。其他相关的临床特征包括脊柱侧弯、癫痫发作、肾脏异常和心脏异常。然而，许多已发表的 Sotos 综合征临床描述都是基于对儿童的研究；Sotos 综合征成人的表型尚未得到很好的描述。鉴于 NSD1 的破坏被证明会导致 Sotos 综合征到现在已有 17 年，因此许多首次报道的儿童现在已经是成年人了。因此，研究 44 名患有 Sotos 综合征和 NSD1 致病变异的成年人的表型是及时的。我们已经表明，患有 Sotos 综合征的成年人表现出广泛的智力能力，其功能范围从完全独立到完全依赖。繁殖率很低。在我们的队列中，成年女性的中位身高为 +1.9 SD，男性为 +0.5 SD。成年人有一个独特的面部外观，有一个高大、方形、突出的下巴。令人欣慰的是，患有 Sotos 综合征的成年人一般都很健康，几乎没有新的医疗问题。然而，少数人出现了淋巴水肿、牙列不良、听力丧失、挛缩和震颤。患有 Sotos 综合征的成年人一般都很健康，几乎没有新的医疗问题；然而，少数人出现了淋巴水肿、牙列不良、听力丧失、挛缩和震颤。患有 Sotos 综合征的成年人一般都很健康，几乎没有新的医疗问题；然而，少数人出现了淋巴水肿、牙列不良、听力丧失、挛缩和震颤。