SERKAL syndrome: Difference between revisions
From WikiMD's Wellness Encyclopedia
Created page with "'''Other Names:''' Sex reversion-kidneys, adrenal and lung dysgenesis syndrome SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by femal..." Tag: visualeditor-wikitext |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = SERKAL syndrome | |||
| image = [[File:Autorecessive.svg|200px]] | |||
| caption = SERKAL syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Ambiguous genitalia]], [[renal agenesis]], [[lung hypoplasia]], [[adrenal hypoplasia]] | |||
| onset = [[Prenatal]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[WNT4]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[prenatal ultrasound]] | |||
| differential = | |||
| prevention = | |||
| treatment = Supportive care | |||
| medication = | |||
| prognosis = Poor | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Other Names:''' Sex reversion-kidneys, adrenal and lung dysgenesis syndrome | '''Other Names:''' Sex reversion-kidneys, adrenal and lung dysgenesis syndrome | ||
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. | SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. | ||
== '''Epidemiology''' == | == '''Epidemiology''' == | ||
The syndrome is lethal and has been described in three foetuses. | The syndrome is lethal and has been described in three foetuses. | ||
== '''Cause''' == | == '''Cause''' == | ||
It is caused by homozygous missense mutations in the '''WNT4 gene.''' | It is caused by homozygous missense mutations in the '''WNT4 gene.''' | ||
== '''Inheritance''' == | == '''Inheritance''' == | ||
It is transmitted as an [[autosomal recessive]] trait. | It is transmitted as an [[autosomal recessive]] trait. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
100% of people have these symptoms | 100% of people have these symptoms | ||
* Growth delay(Delayed growth) | * Growth delay(Delayed growth) | ||
| Line 22: | Line 37: | ||
* Renal agenesis(Absent kidney) | * Renal agenesis(Absent kidney) | ||
* Sex reversal | * Sex reversal | ||
30%-79% of people have these symptoms | 30%-79% of people have these symptoms | ||
* Abnormality of the adrenal glands(Adrenal abnormalities) | * Abnormality of the adrenal glands(Adrenal abnormalities) | ||
| Line 32: | Line 46: | ||
* Pulmonic [[stenosis]](Narrowing of pulmonic valve) | * Pulmonic [[stenosis]](Narrowing of pulmonic valve) | ||
* Ventricular septal defect(Hole in heart wall separating two lower heart chambers) | * Ventricular septal defect(Hole in heart wall separating two lower heart chambers) | ||
[[Category:Genetic diseases and disorders]] | [[Category:Genetic diseases and disorders]] | ||
[[Category:Rare syndromes]] | [[Category:Rare syndromes]] | ||
Latest revision as of 05:50, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| SERKAL syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Ambiguous genitalia, renal agenesis, lung hypoplasia, adrenal hypoplasia |
| Complications | N/A |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the WNT4 gene |
| Risks | |
| Diagnosis | Genetic testing, prenatal ultrasound |
| Differential diagnosis | |
| Prevention | |
| Treatment | Supportive care |
| Medication | |
| Prognosis | Poor |
| Frequency | Rare |
| Deaths | |
Other Names: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.
Epidemiology[edit]
The syndrome is lethal and has been described in three foetuses.
Cause[edit]
It is caused by homozygous missense mutations in the WNT4 gene.
Inheritance[edit]
It is transmitted as an autosomal recessive trait.
Signs and symptoms[edit]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 100% of people have these symptoms
- Growth delay(Delayed growth)
- Oligohydramnios(Low levels of amniotic fluid)
- Pulmonary hypoplasia(Small lung)
- Renal agenesis(Absent kidney)
- Sex reversal
30%-79% of people have these symptoms
- Abnormality of the adrenal glands(Adrenal abnormalities)
- Congenital diaphragmatic hernia
- Hypoplasia of the bladder(Underdeveloped bladder)
- Hypospadias
- Malrotation of small bowel
- Oral cleft(Cleft of the mouth)
- Pulmonic stenosis(Narrowing of pulmonic valve)
- Ventricular septal defect(Hole in heart wall separating two lower heart chambers)
NIH genetic and rare disease info[edit]
SERKAL syndrome is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - SERKAL syndrome
|
