Dysmorphology terminology and genetic syndromes (2015) Ayman El-Hattab, MD, FAAP, FACMG

Description

This educational material provides definitions of key terminology in dysmorphology, the study of structural defects (congenital malformations/birth defects). It defines minor anomalies, illustrates examples of facial and hand abnormalities, and outlines the systematic approach for evaluating individuals with birth defects. The content details the classification of structural defects into sequences (malformation, deformation, disruptive, and dysplasia) and malformation syndromes, explaining their underlying etiologies.