22q11.2 deletion syndrome differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:  : Ayushi Jain, M.B.B.S[2]

Overview

DGS must be differentiated from other diseases that cause similar clinical features and have a broad spectrum of presentation.

Differentiating [Disease name] from other Diseases

DGS must be differentiated from Smith-Lemli-Opitz syndrome, Oculo-auriculo vertebral (Goldenhar) syndrome (OAVS), Alagille syndrome, VATER association, and CHARGE syndrome.

Differentiating DGS from other diseases on the basis of overlapping features:

Differential Diagnosis	History	Physical Examination	Lab findings.	Clinical Manifestations						+	-
DiGeorges
Smith-Lemli-Opitz syndrome				Polydactyly	Cleft Palate
Oculo-auriculo vertebral (Goldenhar) syndrome (OAVS)				Ear anomalies	Heart Disease	Vertebral Defects	Renal Anomalies
Alagille syndrome				Butterfly Vertebral	Renal
VATER association				Heart Disease	Vertebral	Renal	Limb
CHARGE syndrome				Congenital Heart disease	Palatal Differences	Atresia Choanae	Coloboma	Renal	Growth Deficiency

Diseases	Clinical manifestations
	Smith-Lemli-Opitz syndrome	polydactyly	cleft palate
Oculo-auriculo vertebral (Goldenhar) syndrome (OAVS)	Ear anomalies	heart disease	vertebral defects	renal anomalies
Alagille syndrome	Butterfly vertebrae.	congenital heart disease	posterior embryotoxon
VATER association	heart disease	vertebral	renal	limb
CHARGE syndrome	congenital heart disease,	palatal differences,	atresia choanae,	coloboma,	renal,	growth deficiency,