SMAD4

This website provides information on patients with pathogenic variants in the SMAD4gene, including clinical data, molecular data, management, and research options. Myhre Syndrome (MYHRS) is a medical condition caused by heterozygous pathogenic variants in the SMAD4gene. It is a rare genetic pleiotropic disorder characterised by intellectual disability, dysmorphism such as prognathism, skeletal abnormalities, arthropathy and laryngotracheal stenosis. Not all individuals with pathogenic variants in the SMAD4gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with pathogenic variants in the SMAD4gene.

We invite clinicians who have identified a pathogenic variant in SMAD4in a patient to submit their data to the database.

Ceren Alavanda, MD, Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, cerenalavanda@gmail.com
Ayça Dilruba Aslanger, MD, Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, aaslanger@yahoo.com