Gene/phenotype/disorder of interest
Sotos syndrome : OMIM #117550
Abstract
Sotos syndrome is a neurodevelopmental overgrowth disorder caused by pathogenic
variants in NSD1. While the childhood phenotype is well described, information on adult
outcomes and long-term natural history remains limited.
With this call, we aim to establish a cohort of adults (≥18 years) with molecularly confirmed
Sotos syndrome to better characterise the adult phenotype. Areas of interest include
medical comorbidities, neurological and psychiatric manifestations, musculoskeletal
complications, functional abilities and independence, and other age-related health concerns.
The aim is to improve knowledge of the long-term course of Sotos syndrome and identify
potential needs for surveillance and management in adulthood.
Coordinating clinicians
Morten Reiffenstein Huno, MOHUNO@rm.dk
Mette Møller Handrup
Institution
Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? N