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The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

2019; Wiley; Volume: 181; Issue: 4 Linguagem: Inglês

10.1002/ajmg.c.31738

1552-4876

Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Jill Clayton‐Smith, Huw Dorkins, Alan Fryer, Blanca Gener, David Goudie, Alex Henderson, Melita Irving, Shelagh Joss, Vaughan Keeley, Nayana Lahiri, Sally Ann Lynch, Sahar Mansour, Emma McCann, Jenny Morton, Nicole Motton, Alexandra Murray, Katie Riches, Deborah Shears, Zornitza Stark, Elizabeth Thompson, Julie Vogt, Michael Wright, Trevor Cole, Katrina Tatton‐Brown,

Congenital heart defects research

Abstract 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.