SERKAL syndrome

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Obesity, Sleep & Internal medicine
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SERKAL syndrome
File:Autorecessive.svg
Synonyms
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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

The syndrome is lethal and has been described in three foetuses.

Cause

It is caused by homozygous missense mutations in the WNT4 gene.

Inheritance

It is transmitted as an autosomal recessive trait.

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. 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

• NIH info on SERKAL syndrome

SERKAL syndrome is a rare disease.