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, |