Peter Lauffer

1 Introduction Beckwith–Wiedemann syndrome (BWS; OMIM #130650) is an overgrowth disorder primarily characterized by macrosomia, macroglossia, and abdominal wall defects. Clinical diagnosis is based on a clinical scoring system and the variability in phenotype has led to the recent introduction of the term Beckwith–Wiedemann spectrum (BWSp) (Brioude et al. 2018).

Abstract Externe IDs PubMedCentral PMC11087720 Schlagworte Humans, Transcription Factor 4/genetics, Hyperventilation/genetics, Intellectual Disability/genetics, Female, DNA Methylation, Male, Child, Facies, Adolescent, Epigenomics/methods, Epigenesis, Genetic, Hyperkinesis/genetics, Child, Preschool, Adult, Young Adult

Abstract Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction.