Congenital diaphragmatic hernia causes: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Congenital diaphragmatic hernia}} | {{Congenital diaphragmatic hernia}} | ||
{{CMG}} {{AE}}[[User:AroojNaz|Arooj Naz, M.B.B.S]] | {{CMG}}; {{AE}}[[User:AroojNaz|Arooj Naz, M.B.B.S]] | ||
==Overview== | ==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 | 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== | ==Causes== | ||
Although the aetiology for [[Congenital diaphragmatic hernia|CDH]] remains 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> | 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 | *[[Genetic]] factors | ||
* [[Teratogenic]] exposures | *[[Teratogenic]] exposures | ||
=== Genetic factors === | ===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. | 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]] | *[[Aneuploidies]] | ||
* [[Chromosomal Anomalies]] | *[[Chromosomal Anomalies]] | ||
* [[Syndromes]] | *[[Syndromes]] | ||
| Line 28: | Line 28: | ||
|[[Trisomy 13]] <ref name="“Wikidoc”">{{cite web|url=https://www.wikidoc.org/index.php/Patau_syndrome}}</ref> | |[[Trisomy 13]] <ref name="“Wikidoc”">{{cite web|url=https://www.wikidoc.org/index.php/Patau_syndrome}}</ref> | ||
| | | | ||
* [[Intellectual disability]] | *[[Intellectual disability]] | ||
* [[Rocker- bottom feet]] | *[[Rocker- bottom feet]] | ||
* [[Microcephaly]] | *[[Microcephaly]] | ||
* [[Cleft lip and palate]] | *[[Cleft lip and palate]] | ||
* [[Holoprosencephaly]] | *[[Holoprosencephaly]] | ||
* [[Polydactyly]] | *[[Polydactyly]] | ||
* [[Cutis aplasia]] | *[[Cutis aplasia]] | ||
* [[Congenital heart disease]] | *[[Congenital heart disease]] | ||
* [[Polycystic kidney disease]] | *[[Polycystic kidney disease]] | ||
* [[Omphalocele]] | *[[Omphalocele]] | ||
|- | |- | ||
|[[Trisomy 18]] <ref name="“Wikidoc”2">{{cite web|url=https://www.wikidoc.org/index.php/Edwards_syndrome}}</ref> | |[[Trisomy 18]] <ref name="“Wikidoc”2">{{cite web|url=https://www.wikidoc.org/index.php/Edwards_syndrome}}</ref> | ||
| | | | ||
* [[Intellectual disability]] | *[[Intellectual disability]] | ||
* [[Rocker- bottom feet]] | *[[Rocker- bottom feet]] | ||
* Prominent [[occiput]] | *Prominent [[occiput]] | ||
* Clenched fists with overlapping fingers | *Clenched fists with overlapping fingers | ||
* [[Low-set ears]] | *[[Low-set ears]] | ||
* [[Congenital heart disease]] | *[[Congenital heart disease]] | ||
* [[Omphalocele]] | *[[Omphalocele]] | ||
|- | |- | ||
|[[Trisomy 21]] <ref name="“Wikidoc”3">{{cite web|url=https://www.wikidoc.org/index.php/Down_syndrome_history_and_symptoms}}</ref> | |[[Trisomy 21]] <ref name="“Wikidoc”3">{{cite web|url=https://www.wikidoc.org/index.php/Down_syndrome_history_and_symptoms}}</ref> | ||
| | | | ||
* [[Intellectual disability]] | *[[Intellectual disability]] | ||
* Flat facial features | *Flat facial features | ||
* Prominent [[Epicanthal fold|epicanthal folds]] | *Prominent [[Epicanthal fold|epicanthal folds]] | ||
* [[Single palmar crease]] | *[[Single palmar crease]] | ||
* Gap between first and second toes | *Gap between first and second toes | ||
* Gastrointestinal anomalies ([[duodenal atresia]] and [[hirschsprung disease]]) | *Gastrointestinal anomalies ([[duodenal atresia]] and [[hirschsprung disease]]) | ||
* [[Congenital heart disease]] | *[[Congenital heart disease]] | ||
* [[Brushfield spots]] | *[[Brushfield spots]] | ||
|- | |- | ||
|[[Turner syndrome]] <ref name="“Wikidoc”4">{{cite web|url=https://www.wikidoc.org/index.php/Turner_syndrome_history_and_symptoms}}</ref> | |[[Turner syndrome]] <ref name="“Wikidoc”4">{{cite web|url=https://www.wikidoc.org/index.php/Turner_syndrome_history_and_symptoms}}</ref> | ||
| | | | ||
* [[Short stature]] | *[[Short stature]] | ||
* [[Ovarian dysgenesis]] | *[[Ovarian dysgenesis]] | ||
* Shield chest | *Shield chest | ||
* [[Bicuspid aortic valve]] | *[[Bicuspid aortic valve]] | ||
* [[Coarctation of the aorta]] | *[[Coarctation of the aorta]] | ||
* [[Webbed neck]] or [[cystic hygroma]] | *[[Webbed neck]] or [[cystic hygroma]] | ||
* [[Horseshoe kidney]] | *[[Horseshoe kidney]] | ||
|} | |} | ||
{| class="wikitable" | {| class="wikitable" | ||
| Line 77: | Line 77: | ||
|[[Pallister-Killian syndrome]] (tetrasomy 12p) | |[[Pallister-Killian syndrome]] (tetrasomy 12p) | ||
| | | | ||
* Prenatal Findings: [[short limbs]], CNS anomalies, [[hydrops fetalis]] | *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]] | *Postnatal findings: [[sparse hair]], [[broad forehead]], [[low set ears]], [[broad hands]], [[seizures]], [[Congenital cardiac defects|congenital heart defects]] | ||
* Normal growth | *Normal growth | ||
|- | |- | ||
|[[Wolf-Hirschhorn syndrome]] (deletion 4p16.3) | |[[Wolf-Hirschhorn syndrome]] (deletion 4p16.3) | ||
| | | | ||
* [[Seizures]] | *[[Seizures]] | ||
* [[Stunted growth]] | *[[Stunted growth]] | ||
|- | |- | ||
|[[Deletion 1q41-q42]] | |[[Deletion 1q41-q42]] | ||
| | | | ||
* [[Limb anomalies]] | *[[Limb anomalies]] | ||
* [[Seizures]] | *[[Seizures]] | ||
|- | |- | ||
|[[Deletion 15q26.2]] | |[[Deletion 15q26.2]] | ||
| | | | ||
* [[Cryptorchidism]] | *[[Cryptorchidism]] | ||
* [[Congenital heart defects]] | *[[Congenital heart defects]] | ||
* [[Stunted growth]] | *[[Stunted growth]] | ||
|- | |- | ||
|[[Deletion 17q12]] | |[[Deletion 17q12]] | ||
| | | | ||
* [[Genitourinary defects]] | *[[Genitourinary defects]] | ||
* [[Maturity onset diabetes of the young|Maturity-onset diabetes of the young]] | *[[Maturity onset diabetes of the young|Maturity-onset diabetes of the young]] | ||
* [[Intellectual disability]] | *[[Intellectual disability]] | ||
|} | |} | ||
{| class="wikitable" | {| class="wikitable" | ||
| Line 112: | Line 112: | ||
|AR | |AR | ||
| | | | ||
* [[Enlarged anterior fontanelle]] | *[[Enlarged anterior fontanelle]] | ||
* [[Sensorineural hearing loss]] | *[[Sensorineural hearing loss]] | ||
* [[Proteinuria]] | *[[Proteinuria]] | ||
|- | |- | ||
|[[LTBP4-related cutis laxa|''LTBP4''-related cutis laxa]] | |[[LTBP4-related cutis laxa|''LTBP4''-related cutis laxa]] | ||
|AR | |AR | ||
| | | | ||
* [[Loose skin]] | *[[Loose skin]] | ||
* [[Emphysema]] | *[[Emphysema]] | ||
* [[GI & bladder diverticula]] | *[[GI & bladder diverticula]] | ||
|- | |- | ||
|[[Cardiac-urogenital syndrome]] | |[[Cardiac-urogenital syndrome]] | ||
|AD | |AD | ||
| | | | ||
* [[Congenital heart defects]] | *[[Congenital heart defects]] | ||
* [[Genitourinary defects]] | *[[Genitourinary defects]] | ||
|- | |- | ||
|[[Tonne-Kalscheuer syndrome]] | |[[Tonne-Kalscheuer syndrome]] | ||
|X-linked | |X-linked | ||
| | | | ||
* [[Intellectual disability]] | *[[Intellectual disability]] | ||
* [[Genitourinary defects]] | *[[Genitourinary defects]] | ||
|} | |} | ||
=== Nutritional deficiencies/ Teratogenic exposures === | ===Nutritional deficiencies/ Teratogenic exposures=== | ||
* [[Allopurinol]] | *[[Allopurinol]] | ||
* [[Lithium]] | *[[Lithium]] | ||
* [[Mycophenolate|Mycophenolate mofetil]] | *[[Mycophenolate|Mycophenolate mofetil]] | ||
*[[Phenmetrazine]] | |||
*[[Thalidomide]] | |||
*[[Quinine]] | |||
==References== | ==References== | ||
Revision as of 11:07, 24 April 2022
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Congenital diaphragmatic hernia Microchapters |
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Differentiating Congenital diaphragmatic hernia from Other Diseases |
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Congenital diaphragmatic hernia causes On the Web |
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Risk calculators and risk factors for Congenital diaphragmatic hernia causes |
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
- 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.
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 | Clinical Features |
|---|---|
| Trisomy 13 [2] | |
| Trisomy 18 [3] |
|
| Trisomy 21 [4] |
|
| Turner syndrome [5] |
| Chromosomal Anomaly | Clinical Features |
|---|---|
| Pallister-Killian syndrome (tetrasomy 12p) |
|
| Wolf-Hirschhorn syndrome (deletion 4p16.3) | |
| Deletion 1q41-q42 | |
| Deletion 15q26.2 | |
| Deletion 17q12 |
| 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
- ↑ 1.0 1.1 "StatPearls". ( ). 2022: . PMID 32310536 Check
|pmid=value (help). - ↑ https://www.wikidoc.org/index.php/Patau_syndrome. Missing or empty
|title=(help) - ↑ https://www.wikidoc.org/index.php/Edwards_syndrome. Missing or empty
|title=(help) - ↑ https://www.wikidoc.org/index.php/Down_syndrome_history_and_symptoms. Missing or empty
|title=(help) - ↑ https://www.wikidoc.org/index.php/Turner_syndrome_history_and_symptoms. Missing or empty
|title=(help) - ↑ 6.0 6.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW; et al. (1993). "GeneReviews®". ( ): . PMID 20301533.