Acquired Craniofacial Disorders

Disease Characteristics and Pathophysiology

Unlike true congenital conditions like DiGeorge syndrome or CHARGE syndrome which result from aberrant embryological development of pharyngeal pouches and other structures, Parry-Romberg syndrome develops after birth 1
Congenital conditions with craniofacial involvement (like DiGeorge syndrome) are characterized by defects present at birth due to abnormal embryological development, whereas Parry-Romberg syndrome manifests as progressive atrophy beginning in childhood 1, 2

Unlike congenital conditions such as hemifacial microsomia (which is present at birth with an incidence of 1 in 5,600 to 1 in 26,550 live births), Parry-Romberg syndrome develops postnatally 3
True congenital conditions like DiGeorge syndrome result from defects in embryological development of structures like the thymus and parathyroid glands 1, 2
Congenital disorders like cardio-facio-cutaneous syndrome begin in the prenatal period with ultrasound findings such as increased nuchal lucency and sometimes cystic hygroma 4