Treacher Collins syndrome (TCS), also known as Mandibulofacial Dysostosis (OMIM #154500) or historically as Franceschetti-Zwahlen-Klein syndrome, is a rare autosomal dominant craniofacial disorder characterized by bilateral symmetric anomalies of the…
1. 🔍 Definition & Pathophysiology Ebstein anomaly is a rare congenital cardiac defect characterized by downward (apical) displacement of the septal and posterior leaflets of the tricuspid valve into the…
DefinitionDown syndrome (DS), or Trisomy 21, is a constitutional chromosomal disorder caused by the presence of an extra full or partial copy of chromosome 21. This additional genetic material disrupts…
