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. All of the clinical findings associated with 22q11.2 deletion syndrome (22q11.2DS) can also occur as an isolated anomaly in an otherwise healthy individual. Genetic disorders and teratogenic exposures that may cause a clinical phenotype similar to 22q11.2DS are discussed in this section.

Differentiating [Disease name] from other Diseases

All of the clinical findings associated with 22q11.2 deletion syndrome (22q11.2DS) can also occur as an isolated anomaly in an otherwise healthy individual. Genetic disorders and teratogenic exposures that may cause a clinical phenotype similar to 22q11.2DS are discussed in this section. 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		Physical Examination	Lab findings.	Clinical Manifestations						+	-
Single Gene Disorders
Disorder	Gene Involved
Smith-Lemli-Opitz syndrome	DHCR7			Polydactyly	Cleft Palate
Alagille syndrome	JAG1NOTCH2			Butterfly Vertebral	Renal
CHARGE syndrome	CHD7			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,