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 | Para-clinical findings | Gold standard | Additional findings | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Symptoms | Physical examination | ||||||||||||||
| Lab Findings | Imaging | Histopathology | |||||||||||||
| Symptom | Symptom | Symptom | Physical exam 1 | Physical exam 2 | Physical exam 3 | Lab 1 | Lab 2 | Lab 3 | Imaging 1 | Imaging 2 | Imaging 3 | ||||
| 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 | ||||||||||||
| Diseases | Symptom 1 | Symptom 2 | Symptom 3 | Physical exam 1 | Physical exam 2 | Physical exam 3 | Lab 1 | Lab 2 | Lab 3 | Imaging 1 | Imaging 2 | Imaging 3 | Histopathology | Gold standard | Additional findings |
| VATER association | heart disease | vertebral | renal | limb | |||||||||||
| CHARGE syndrome | congenital heart disease, | palatal differences, | atresia choanae, | coloboma, | renal, | growth deficiency, | ear anomalies/hearing loss, | facial palsy, | developmental differences, | genitourinary anomalies, | immunodeficiency | ||||