Tag: anomaly
Lancaster Disease (must read, learn in 5 minutes)
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 first and second pharyngeal arches. It primarily affects the development of bones and soft tissues of the face, particularly the mandible, zygomatic complex, external ears,…
Ebstein anomaly – epidemiology, signs, symptoms, treatment
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 right ventricle, resulting in “atrialization” of a portion of the RV and dilatation of the right atrium. Leaflets may be tethered or fenestrated, with an…
Down Syndrome (Trisomy 21): A Comprehensive Overview
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 typical embryonic and postnatal development, leading to a characteristic pattern of cognitive, physical, and medical features that vary widely in severity across individuals. Three cytogenetic…
