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:
| 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, |