Congenital diaphragmatic hernia causes: Difference between revisions

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{{Congenital diaphragmatic hernia}}
{{Congenital diaphragmatic hernia}}
{{CMG}}; {{AE}}[[User:AroojNaz|Arooj Naz, M.B.B.S]]


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==Overview==
The underlying causes for congenital diaphragmatic hernia are still to be determined, but there have been studies to show a high rate of incidence in occurrence with certain exposures. These include genetic factors and teratogenic exposures such as [[allopurinol]], [[lithium]] and [[Mycophenolate|mycophenolate mofetil]]. Genetic factors can further be sub-divided into [[aneuploidies]], [[Chromosomal Anomalies|chromosomal anomalies]] and [[syndromes]]. [[Aneuploidies]] include [[Trisomy 13]], [[Trisomy 18]], [[Trisomy 21]], and [[Turner syndrome]]. [[Chromosomal Anomalies|Chromosomal anomalies]] include [[Pallister-Killian syndrome]], [[Wolf-Hirschhorn syndrome]] and various other [[gene deletion]] syndromes. Associated syndromes include [[Donnai-Barrow syndrome]], [[LTBP4-related cutis laxa|''LTBP4''-related cutis laxa]], [[Cardiac-urogenital syndrome]] and [[Tonne-Kalscheuer syndrome]].
 
==Causes==
Although the aetiology for [[Congenital diaphragmatic hernia|CDH]] remains largely unclear, it has been presumed that many factors may contribute to the condition. These include:<ref name="pmid32310536">{{cite journal| author=| title=StatPearls | journal= | year= 2022 | volume=  | issue=  | pages=  | pmid=32310536 | doi= | pmc= | url= }}</ref>
 
*[[Genetic]] factors
*[[Teratogenic]] exposures
 
===Genetic factors===
To date, there have been many [[genetic factors]] associated with the development of CDH. These range from [[gene deletions]] and [[mutations]] to [[aneuploidies]]. There have also been some [[syndromes]] associated with CDH. Disturbances in the [[retinoid-signalling pathway]] may also contribute to disease development but are still being studied.
 
*[[Aneuploidies]]
*[[Chromosomal Anomalies]]
*[[Syndromes]]
 
 
Although there are a multitude of associated conditions, the following have been shown to have ''high rates'' of occurrence in children concomitantly affected with [[Congenital diaphragmatic hernia|CDH]]:
{| class="wikitable"
|+Aneuploidies Associated with CDH Development <ref name="pmid32310536" />
!Aneuploidies
!Clinical Features
|-
|[[Trisomy 13]] <ref name="“Wikidoc”">{{cite web|url=https://www.wikidoc.org/index.php/Patau_syndrome}}</ref>
|
*[[Intellectual disability]]
*[[Rocker-bottom feet]]
*[[Microcephaly]]
*[[Cleft lip and palate]]
*[[Holoprosencephaly]]
*[[Polydactyly]]
*[[Cutis aplasia]]
*[[Congenital heart disease]]
*[[Polycystic kidney disease]]
*[[Omphalocele]]
|-
|[[Trisomy 18]] <ref name="“Wikidoc”2">{{cite web|url=https://www.wikidoc.org/index.php/Edwards_syndrome}}</ref>
|
*[[Intellectual disability]]
*[[Rocker-bottom feet]]
*Prominent [[occiput]]
*Clenched fists with overlapping fingers
*[[Low-set ears]]
*[[Congenital heart disease]]
*[[Omphalocele]]
|-
|[[Trisomy 21]] <ref name="“Wikidoc”3">{{cite web|url=https://www.wikidoc.org/index.php/Down_syndrome_history_and_symptoms}}</ref>
|
*[[Intellectual disability]]
*Flat facial features
*Prominent [[Epicanthal fold|epicanthal folds]]
*[[Single palmar crease]]
*Gap between first and second toes
*Gastrointestinal anomalies ([[duodenal atresia]] and [[hirschsprung disease]])
*[[Congenital heart disease]]
*[[Brushfield spots]]
|-
|[[Turner syndrome]] <ref name="“Wikidoc”4">{{cite web|url=https://www.wikidoc.org/index.php/Turner_syndrome_history_and_symptoms}}</ref>
|
*[[Short stature]]
*[[Ovarian dysgenesis]]
*Shield chest
*[[Bicuspid aortic valve]]
*[[Coarctation of the aorta]]
*[[Webbed neck]] or [[cystic hygroma]]
*[[Horseshoe kidney]]
|}
{| class="wikitable"
|+Chromosome Anomalies Associated with CDH Development (Table adapted from <ref name="pmid20301533">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW | display-authors=etal| title=GeneReviews® | journal= | year= 1993 | volume=  | issue=  | pages=  | pmid=20301533 | doi= | pmc= | url= }}</ref>)
!Chromosomal Anomaly
!Clinical Features
|-
|[[Pallister-Killian syndrome]] (tetrasomy 12p)
|
*Prenatal Findings: [[short limbs]], CNS anomalies, [[hydrops fetalis]]
*Postnatal findings: [[sparse hair]], [[broad forehead]], [[low set ears]], [[broad hands]], [[seizures]], [[Congenital cardiac defects|congenital heart defects]]
*Normal growth
|-
|[[Wolf-Hirschhorn syndrome]] (deletion 4p16.3)
|
*[[Seizures]]
*[[Stunted growth]]
|-
|[[Deletion 1q41-q42]]
|
*[[Limb anomalies]]
*[[Seizures]]
|-
|[[Deletion 15q26.2]]
|
*[[Cryptorchidism]]
*[[Congenital heart defects]]
*[[Stunted growth]]
|-
|[[Deletion 17q12]]
|
*[[Genitourinary defects]]
*[[Maturity onset diabetes of the young|Maturity-onset diabetes of the young]]
*[[Intellectual disability]]
|}
{| class="wikitable"
|+Syndromes Associated with CDH Development (Table adapted from <ref name="pmid20301533" />)
!Syndrome
!Mode of Inheritance
!Clinical Features
|-
|[[Donnai-Barrow syndrome]]
|AR
|
*[[Enlarged anterior fontanelle]]
*[[Sensorineural hearing loss]]
*[[Proteinuria]]
|-
|[[LTBP4-related cutis laxa|''LTBP4''-related cutis laxa]]
|AR
|
*[[Loose skin]]
*[[Emphysema]]
*[[GI & bladder diverticula]]
|-
|[[Cardiac-urogenital syndrome]]
|AD
|
*[[Congenital heart defects]]
*[[Genitourinary defects]]
|-
|[[Tonne-Kalscheuer syndrome]]
|X-linked
|
*[[Intellectual disability]]
*[[Genitourinary defects]]
|}
 
===Nutritional deficiencies/ Teratogenic exposures===
 
*[[Allopurinol]]
*[[Lithium]]
*[[Mycophenolate|Mycophenolate mofetil]]
*[[Phenmetrazine]]
*[[Thalidomide]]
*[[Quinine]]


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
 
[[Category:Up to date]]
[[Category:Needs content]]
[[Category:Gastroenterology]]
 
{{WH}}
{{WS}}

Latest revision as of 21:22, 5 December 2022

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Arooj Naz, M.B.B.S

Overview

The underlying causes for congenital diaphragmatic hernia are still to be determined, but there have been studies to show a high rate of incidence in occurrence with certain exposures. These include genetic factors and teratogenic exposures such as allopurinol, lithium and mycophenolate mofetil. Genetic factors can further be sub-divided into aneuploidies, chromosomal anomalies and syndromes. Aneuploidies include Trisomy 13, Trisomy 18, Trisomy 21, and Turner syndrome. Chromosomal anomalies include Pallister-Killian syndrome, Wolf-Hirschhorn syndrome and various other gene deletion syndromes. Associated syndromes include Donnai-Barrow syndrome, LTBP4-related cutis laxa, Cardiac-urogenital syndrome and Tonne-Kalscheuer syndrome.

Causes

Although the aetiology for CDH remains largely unclear, it has been presumed that many factors may contribute to the condition. These include:[1]

Genetic factors

To date, there have been many genetic factors associated with the development of CDH. These range from gene deletions and mutations to aneuploidies. There have also been some syndromes associated with CDH. Disturbances in the retinoid-signalling pathway may also contribute to disease development but are still being studied.


Although there are a multitude of associated conditions, the following have been shown to have high rates of occurrence in children concomitantly affected with CDH:

Aneuploidies Associated with CDH Development [1]
Aneuploidies Clinical Features
Trisomy 13 [2]
Trisomy 18 [3]
Trisomy 21 [4]
Turner syndrome [5]
Chromosome Anomalies Associated with CDH Development (Table adapted from [6])
Chromosomal Anomaly Clinical Features
Pallister-Killian syndrome (tetrasomy 12p)
Wolf-Hirschhorn syndrome (deletion 4p16.3)
Deletion 1q41-q42
Deletion 15q26.2
Deletion 17q12
Syndromes Associated with CDH Development (Table adapted from [6])
Syndrome Mode of Inheritance Clinical Features
Donnai-Barrow syndrome AR
LTBP4-related cutis laxa AR
Cardiac-urogenital syndrome AD
Tonne-Kalscheuer syndrome X-linked

Nutritional deficiencies/ Teratogenic exposures

References

  1. ↑ 1.0 1.1 "StatPearls".   ( ). 2022:  . PMID 32310536 Check |pmid= value (help).
  2. ↑ https://www.wikidoc.org/index.php/Patau_syndrome. Missing or empty |title= (help)
  3. ↑ https://www.wikidoc.org/index.php/Edwards_syndrome. Missing or empty |title= (help)
  4. ↑ https://www.wikidoc.org/index.php/Down_syndrome_history_and_symptoms. Missing or empty |title= (help)
  5. ↑ https://www.wikidoc.org/index.php/Turner_syndrome_history_and_symptoms. Missing or empty |title= (help)
  6. ↑ 6.0 6.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). "GeneReviews®".   ( ):  . PMID 20301533.
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