The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Sotos syndrome
adult phenotype
overgrowth-intellectual disability syndrome
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
18
04
2019
revised:
09
07
2019
accepted:
10
07
2019
pubmed:
4
9
2019
medline:
6
5
2020
entrez:
4
9
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31479583
doi: 10.1002/ajmg.c.31738
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
502-508Subventions
Organisme : Wellcome Trust
ID : 100210
Pays : United Kingdom
Organisme : National Institute for Health Research
Pays : International
Organisme : Child Growth Foundation
ID : GR01/13
Pays : International
Informations de copyright
© 2019 Wiley Periodicals, Inc.
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