P267: Neuropsychiatric manifestations in Myhre syndrome: Expanding the phenotype to guide early diagnosis and monitoring

Genetics in Medicine Open 2026 Open access

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Authors: Mariz Ebuen, Vasudevan Krishnan, Kathleen Irby, Ryan Monsberger, Robert James Hopkin, Margaret Brand, Nora D.B. Friedman, Robyn Pauline Thom, Allan L. Reiss, Claudia A. Algaze, Jonathan Adam Bernstein, Samantha Alexander
+4 more Valérie Cormier‐Daire, Angela E. Lin, Suha Bachir, Sharmilla Ravi
DOI: 10.1016/j.gimo.2026.103761
Cited by: 0

Abstract

Myhre syndrome is a rare genetic disorder caused by pathogenic variants in the SMAD4 gene at the Ile500 or Arg496 residue. It is characterized by short stature, a distinctive facial appearance, cardiac and respiratory abnormalities, hearing loss, thickened skin, and joint restriction. The neurocognitive profile may include intellectual disability and developmental delay across various domains. Four individuals with Myhre syndrome and psychosis and/or schizophrenia have previously been reported. Here, we discuss three additional individuals with Myhre syndrome who presented with acute-onset psychosis.

Fields of Study & Subjects

Connective tissue disorders research Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103761–103761
Publication date
1 January 2026
Language
EN