22q11.2 deletion syndrome differential diagnosis: Difference between revisions
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! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|Histopathology | ! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|Histopathology | ||
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! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom | ||
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom | ! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 1 | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 1 | ||
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 2 | ! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 2 | ||
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! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 3 | ! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 3 | ||
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| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Smith-Lemli-Opitz syndrome | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |polydactyly<br /> | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |cleft palate | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
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| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Oculo-auriculo vertebral (Goldenhar) syndrome (OAVS) | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |Ear anomalies | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |heart disease | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |vertebral defects | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |renal anomalies | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
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|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Alagille syndrome | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |Butterfly vertebrae. | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |congenital heart disease | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |posterior embryotoxon | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
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!Additional findings | !Additional findings | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |VATER association | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |heart disease | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |vertebral | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |renal | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |limb | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
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| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |CHARGE syndrome | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |congenital heart disease, | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |palatal differences, | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |atresia choanae, | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |coloboma, | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |renal, | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |growth deficiency, | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |ear anomalies/hearing loss, | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |facial palsy, | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |developmental differences, | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |genitourinary anomalies, | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |immunodeficiency | ||
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Revision as of 02:00, 10 July 2020
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 | ||||