22q11.2 deletion syndrome differential diagnosis: Difference between revisions

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! rowspan="4"  style="background: #4479BA; color: #FFFFFF; text-align: center;|Diseases
! rowspan="4"  style="background: #4479BA; color: #FFFFFF; text-align: center;|Diseases
| colspan="6" rowspan="1"  style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Clinical manifestations'''
| colspan="6" rowspan="1"  style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Clinical manifestations'''
! colspan="7" rowspan="2"  style="background: #4479BA; color: #FFFFFF; text-align: center;|Para-clinical findings
| colspan="1" rowspan="4"  style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Gold standard'''
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;|Additional findings
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| colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|'''Symptoms'''
| colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|
! colspan="3" rowspan="2"  style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical examination
! colspan="3" rowspan="2"  style="background: #4479BA; color: #FFFFFF; text-align: center;|
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! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab Findings
 
! colspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging
! 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;|
! 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;|
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Symptom
! style="background: #4479BA; color: #FFFFFF; text-align: center;|
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 1
! style="background: #4479BA; color: #FFFFFF; text-align: center;|
! 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;|
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Physical exam 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;|
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 1
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Lab 3
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 1
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 2
! style="background: #4479BA; color: #FFFFFF; text-align: center;|Imaging 3
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| style="background: #DCDCDC; padding: 5px; text-align: center;" |Smith-Lemli-Opitz syndrome  
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Smith-Lemli-Opitz syndrome  
| style="background: #F5F5F5; padding: 5px;" |polydactyly<br />
| style="background: #F5F5F5; padding: 5px;" |polydactyly<br />
| style="background: #F5F5F5; padding: 5px;" |cleft palate
| style="background: #F5F5F5; padding: 5px;" |cleft palate
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| style="background: #F5F5F5; padding: 5px;" |vertebral defects
| style="background: #F5F5F5; padding: 5px;" |vertebral defects
| style="background: #F5F5F5; padding: 5px;" |renal anomalies  
| style="background: #F5F5F5; padding: 5px;" |renal anomalies  
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|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
!Diseases
!Symptom 1
! colspan="1" rowspan="1" |Symptom 2
!Symptom 3
!Physical exam 1
! colspan="1" rowspan="1" |Physical exam 2
!Physical exam 3
!Lab 1
!Lab 2
!Lab 3
!Imaging 1
!Imaging 2
!Imaging 3
!Histopathology
|'''Gold standard'''
!Additional findings
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| style="background: #DCDCDC; padding: 5px; text-align: center;" |VATER association  
| style="background: #DCDCDC; padding: 5px; text-align: center;" |VATER association
| style="background: #F5F5F5; padding: 5px;" |heart disease
| style="background: #F5F5F5; padding: 5px;" |heart disease
| style="background: #F5F5F5; padding: 5px;" |vertebral  
| style="background: #F5F5F5; padding: 5px;" |vertebral
| style="background: #F5F5F5; padding: 5px;" |renal
| style="background: #F5F5F5; padding: 5px;" |renal
| style="background: #F5F5F5; padding: 5px;" |limb
| style="background: #F5F5F5; padding: 5px;" |limb
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| style="background: #DCDCDC; padding: 5px; text-align: center;" |CHARGE syndrome
| style="background: #DCDCDC; padding: 5px; text-align: center;" |CHARGE syndrome
| style="background: #F5F5F5; padding: 5px;" |congenital heart disease,
| style="background: #F5F5F5; padding: 5px;" |congenital heart disease,
| style="background: #F5F5F5; padding: 5px;" |palatal differences,
| style="background: #F5F5F5; padding: 5px;" |palatal differences,
| style="background: #F5F5F5; padding: 5px;" |atresia choanae,  
| style="background: #F5F5F5; padding: 5px;" |atresia choanae,
| style="background: #F5F5F5; padding: 5px;" |coloboma,
| style="background: #F5F5F5; padding: 5px;" |coloboma,
| style="background: #F5F5F5; padding: 5px;" |renal,
| style="background: #F5F5F5; padding: 5px;" |renal,
| style="background: #F5F5F5; padding: 5px;" |growth deficiency,
| style="background: #F5F5F5; padding: 5px;" |growth deficiency,
| style="background: #F5F5F5; padding: 5px;" |ear anomalies/hearing loss,
| style="background: #F5F5F5; padding: 5px;" |facial palsy,
| style="background: #F5F5F5; padding: 5px;" |developmental differences,
| style="background: #F5F5F5; padding: 5px;" |genitourinary anomalies,
| style="background: #F5F5F5; padding: 5px;" |immunodeficiency
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Revision as of 00:41, 11 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
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,

References

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