pediatrics
Congenital Jaw Abnormalities
Introduction
The jaw can be missing, deformed, or incompletely developed at birth, often in conjunction with other congenital abnormalities and syndromes. (See also Introduction to Congenital Craniofacial and Musculoskeletal Abnormalities and When other anomalies are present, a clinical geneticist can help guide the evaluation because identification of the underlying syndrome is important for prognosis and family counseling. However, a clinical genetic evaluation is recommended even in cases of apparent isolated congenital anomaly. Diagnosis , specific gene tests, or broader gene panel tests should be considered in the evaluation of patients with congenital craniofacial abnormalities. If the results of these tests are nondiagnostic, whole exome sequencing analysis has been recommended. 