Publications by authors named "Susanne Knecht"
Eur J Med Genet
March 2019
Article Synopsis
- 49,XXXXY syndrome is a rare genetic condition characterized by cognitive impairments, expressive language challenges, and developmental speech issues, with symptoms becoming evident in childhood and adolescence.
- Common physical and medical anomalies include muscular hypotonia, joint deformities, and recurrent infections, with many affected individuals having lower IQ scores between 40 to 70.
- The study highlights the distinct facial features developing over time in those with the syndrome, suggesting that increased data will help healthcare providers offer better guidance and support for families dealing with this condition.
