TürkiyeResearch and clinical trials
Sotos syndrome study from 14 centers in Türkiye: 48 children studied
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Türkiye, 14 centers jointly studied children with Sotos syndrome and the similar Malan syndrome. Of 48 children in total, 42 were diagnosed with Sotos and 6 with Malan. In the Sotos group, 38 changes were found in the NSD1 gene. Of these, 23 were seen for the first time. Almost all children had developmental delay.
What does it mean for patients and families?
This is a large national study on these syndromes in Türkiye. Different gene tests can be used together for diagnosis. A genetics doctor decides which test is appropriate.
Source
Scientific paper: Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients. Clinical Genetics, 2026. DOI: 10.1111/cge.70225 · PubMed 42618064
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Sotos syndrome
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.