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

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{{CMG}}; {{AE}} : {{Ajane}}
{{CMG}}; {{AE}} : {{Ajane}}
==Overview==
==Overview==
DGS must be differentiated from other diseases that cause similar clinical features and have a broad spectrum of presentation.
DGS must be differentiated from other diseases that cause similar clinical features and have a broad spectrum of presentation. All of the clinical findings associated with 22q11.2 deletion syndrome (22q11.2DS) can also occur as an isolated anomaly in an otherwise healthy individual. Genetic disorders and teratogenic exposures that may cause a clinical phenotype similar to 22q11.2DS are discussed in this section.


==Differentiating [Disease name] from other Diseases==
==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.
All of the clinical findings associated with 22q11.2 deletion syndrome (22q11.2DS) can also occur as an isolated anomaly in an otherwise healthy individual. Genetic disorders and teratogenic exposures that may cause a clinical phenotype similar to 22q11.2DS are discussed in this section. 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:===
===Differentiating DGS from other diseases on the basis of overlapping features===
 
<br />
{| class="wikitable"
{| class="wikitable"
|+
|+
!Differential Diagnosis
!Differential Diagnosis
!History
!Physical Examination
!Lab findings.
!Clinical Manifestations
!
!
!
!
!
!Clinical Manifestations Overlapping with DGS
!
!
!+
!-
|-
|-
|DiGeorges
|'''Single Gene Disorders'''
|
|
|
|
|
|
|
|
|
|
|
|
|
|-
|'''Disorder'''
|'''Gene Involved'''
|'''Mode of Inheritance'''
|
|
|-
|-
|Smith-Lemli-Opitz syndrome
|Smith-Lemli-Opitz syndrome
|
|''DHCR7''
|
|AR
|
|Polydactyly & cleft palate
|Polydactyly
|-
|Cleft Palate
|Alagille syndrome
|
|''JAG1NOTCH2''
|
|AD
|
|Butterfly vertebrae, CHD, & posterior embryotoxon
|
|-
|
|CHARGE syndrome
|''CHD7''
|AD
|CHD, palatal anomalies, coloboma, choanal atresia, growth deficiency, ear anomalies / hearing loss, DDs, facial palsy, genitourinary anomalies, & immunodeficiency
|-
|Tetralogy of Fallot
|''TBX1'' 1
|AD
|CHD, preauricular pits
|-
|'''Chromosome Disorders'''
| -
| -
|
|
|-
|-
|Oculo-auriculo vertebral (Goldenhar) syndrome (OAVS)
|Deletion 10p13-p14
|
|
|
|Ear anomalies
|Heart Disease
|Vertebral Defects
|Renal Anomalies
|
|
|
|
|
| -
|cardiac defects, immune deficiency, hypoparathyroidism, cleft palate, developmental delay, microcephaly, and cryptorchidism
|-
|-
|Alagille syndrome
|Deletion 11q23-ter (Jacobsen syndrome)
|
| -
|
| -
|
|microcephaly, micrognathia, low set ears, ocular manifestations, cardiac defects, hypospadias, cryptorchidism, and immune deficiency.
|Butterfly Vertebral
|Renal
|
|
|
|
|
|
|-
|-
|VATER association
|'''Other'''
|
| -
|
| -
|
|Heart Disease
|Vertebral
|Renal
|Limb
|
|
|
|
|
|-
|-
|CHARGE syndrome
|'''Disorders of unknown genetic etiology'''
| -
| -
|
|
|
|
|Congenital Heart disease
|Palatal Differences
|Atresia Choanae
|Coloboma
|Renal
|Growth Deficiency
|
|
|}
<br />
<br />
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! 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="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;|
! colspan="3" rowspan="2"  style="background: #4479BA; color: #FFFFFF; text-align: center;|
|-
|-
|VACTERL association


|-
(when congenital heart disease, vertebral, renal, and limb anomalies are present)
! style="background: #4479BA; color: #FFFFFF; text-align: center;|
| -
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|
| -
! style="background: #4479BA; color: #FFFFFF; text-align: center;|
|VATER association is a diagnosis of exclusion without an established etiology to date
! style="background: #4479BA; color: #FFFFFF; text-align: center;|
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;|
! style="background: #4479BA; color: #FFFFFF; text-align: center;|
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Smith-Lemli-Opitz syndrome
| style="background: #F5F5F5; padding: 5px;" |polydactyly<br />
| style="background: #F5F5F5; padding: 5px;" |cleft palate
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Oculo-auriculo vertebral (Goldenhar) syndrome (OAVS)
| style="background: #F5F5F5; padding: 5px;" |Ear anomalies
| style="background: #F5F5F5; padding: 5px;" |heart disease  
| style="background: #F5F5F5; padding: 5px;" |vertebral defects
| style="background: #F5F5F5; padding: 5px;" |renal anomalies  
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Alagille syndrome
| style="background: #F5F5F5; padding: 5px;" |Butterfly vertebrae.
| style="background: #F5F5F5; padding: 5px;" |congenital heart disease
| style="background: #F5F5F5; padding: 5px;" |posterior embryotoxon
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |VATER association
| style="background: #F5F5F5; padding: 5px;" |heart disease
| style="background: #F5F5F5; padding: 5px;" |vertebral
| style="background: #F5F5F5; padding: 5px;" |renal
| style="background: #F5F5F5; padding: 5px;" |limb
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |CHARGE syndrome
|Oculoauriculovertebral (Goldenhar) syndrome (OAVS) (when ear anomalies, vertebral defects, heart disease, renal anomalies are present)
| style="background: #F5F5F5; padding: 5px;" |congenital heart disease,
| -
| style="background: #F5F5F5; padding: 5px;" |palatal differences,
| -
| style="background: #F5F5F5; padding: 5px;" |atresia choanae,
|Ear anomalies, heart disease, Vertebral defects, renal anomalies.
| style="background: #F5F5F5; padding: 5px;" |coloboma,
| style="background: #F5F5F5; padding: 5px;" |renal,
| style="background: #F5F5F5; padding: 5px;" |growth deficiency,
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |
|'''Teratogenic exposures'''
| style="background: #F5F5F5; padding: 5px;" |
| -
| style="background: #F5F5F5; padding: 5px;" |
| -
| style="background: #F5F5F5; padding: 5px;" |
|A phenotype similar to 22q11.2DS can be associated with maternal diabetes and maternal retinoic acid exposure
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
|}
|}
 
<br />
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Latest revision as of 20:25, 12 August 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. All of the clinical findings associated with 22q11.2 deletion syndrome (22q11.2DS) can also occur as an isolated anomaly in an otherwise healthy individual. Genetic disorders and teratogenic exposures that may cause a clinical phenotype similar to 22q11.2DS are discussed in this section.

Differentiating [Disease name] from other Diseases

All of the clinical findings associated with 22q11.2 deletion syndrome (22q11.2DS) can also occur as an isolated anomaly in an otherwise healthy individual. Genetic disorders and teratogenic exposures that may cause a clinical phenotype similar to 22q11.2DS are discussed in this section. 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 Clinical Manifestations Overlapping with DGS
Single Gene Disorders
Disorder Gene Involved Mode of Inheritance
Smith-Lemli-Opitz syndrome DHCR7 AR Polydactyly & cleft palate
Alagille syndrome JAG1NOTCH2 AD Butterfly vertebrae, CHD, & posterior embryotoxon
CHARGE syndrome CHD7 AD CHD, palatal anomalies, coloboma, choanal atresia, growth deficiency, ear anomalies / hearing loss, DDs, facial palsy, genitourinary anomalies, & immunodeficiency
Tetralogy of Fallot TBX1 1 AD CHD, preauricular pits
Chromosome Disorders - -
Deletion 10p13-p14 - cardiac defects, immune deficiency, hypoparathyroidism, cleft palate, developmental delay, microcephaly, and cryptorchidism
Deletion 11q23-ter (Jacobsen syndrome) - - microcephaly, micrognathia, low set ears, ocular manifestations, cardiac defects, hypospadias, cryptorchidism, and immune deficiency.
Other - -
Disorders of unknown genetic etiology - -
VACTERL association

(when congenital heart disease, vertebral, renal, and limb anomalies are present)

- - VATER association is a diagnosis of exclusion without an established etiology to date
Oculoauriculovertebral (Goldenhar) syndrome (OAVS) (when ear anomalies, vertebral defects, heart disease, renal anomalies are present) - - Ear anomalies, heart disease, Vertebral defects, renal anomalies.
Teratogenic exposures - - A phenotype similar to 22q11.2DS can be associated with maternal diabetes and maternal retinoic acid exposure


References

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