What are the other Names for this Condition? (Also known as/Synonyms)

• Galloway Syndrome
• Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
• Nephrosis-Microcephaly Syndrome 

What is Galloway-Mowat Syndrome? (Definition/Background Information)

• Galloway-Mowat Syndrome (GMS) is a very rare genetic disorder that is characterized by physical abnormalities, neurological abnormalities, and abnormal kidney functioning
• The two most important features of this disorder are brain abnormalities and kidney damage. The other signs and symptoms may include developmental delays, poor muscle tone, abnormal kidney function, and mental retardation
• Currently, there are no definitive methods to prevent Galloway-Mowat Syndrome. Also, currently there are no treatment methods available; the treatment provided is usually supportive
• The kidney damage in this syndrome is resistant to treatment and progresses to end-stage kidney disease. The prognosis of Galloway-Mowat Syndrome depends upon the severity of the symptoms

Who gets Galloway-Mowat Syndrome? (Age and Sex Distribution)

• Galloway-Mowat Syndrome is present from birth; however, the symptoms of the disorder may take a few years to appear
• It affects both males and females 

What are the Risk Factors for Galloway-Mowat Syndrome? (Predisposing Factors)

The most important risk factor for Galloway-Mowat Syndrome is a family history of the disorder.

• It is inherited in an autosomal recessive pattern, which means that two copies of the mutated gene must be inherited in order for a child to be born with this disorder
• Children who inherit only one copy of the mutated gene become carriers of the disorder (with no symptoms), but having the ability to pass it on to their offspring

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider. 

What are the Causes of Galloway-Mowat Syndrome? (Etiology)

The mutations that cause the genetic disorder Galloway-Mowat Syndrome have not been identified yet.

• It is believed that mutations associated with podocyte proteins may cause the disorder
• This is believed so because defective and absent podocytes has been associated with nephrotic syndrome, a common feature of the disorder
• Galloway-Mowat Syndrome is inherited in an autosomal recessive pattern

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected). 

What are the Signs and Symptoms of Galloway-Mowat Syndrome?

The common signs and symptoms of Galloway-Mowat Syndrome include:

• Small head circumference (microcephaly)
• Brain malformations
• Distinct facial dimorphism such as protruding tongue, long ears
• Seizures
• Hypotonia (low muscle tone)
• Hyperreflexia (increased reflexes)
• Developmental delays
• Abnormal kidney function (nephrotic syndrome)

How is Galloway-Mowat Syndrome Diagnosed?

The diagnosis of Galloway-Mowat Syndrome may involve:

• A complete evaluation of medical history along with a thorough physical exam
• Thorough neurological examination
• Genetic testing to detect mutation in the podocyte protein may be helpful
• CT scan of the head and neck and MRI brain to detect brain development anomalies
• Evaluation of kidney function by tests such as:
• Urine analysis
• Serum creatinine
• Ultrasound
• Biopsy of the kidney

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis. 

What are the possible Complications of Galloway-Mowat Syndrome?

• Many of the complications that arise in individuals with Galloway-Mowat Syndrome are a result of symptoms associated with the disorder
• Mental retardation due to brain malformations, microcephaly, and seizures may occur
• Loss of kidney function may also occur due to worsening kidney function

How is Galloway-Mowat Syndrome Treated?

• Currently, there is no treatment available for Galloway-Mowat Syndrome. There are, however, treatment options to ease the symptoms of the disorder
• Efforts may be made to control seizures and improve kidney function
• To help with any mental and developmental abnormalities, speech therapy, physical therapy, and education are important tools 

How can be Galloway-Mowat Syndrome  Prevented?

• Currently, there are no specific methods or guidelines to prevent Galloway-Mowat Syndrome, since it is a genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Galloway-Mowat Syndrome? (Outcomes/Resolutions)

• The outcome of individuals with Galloway-Mowat Syndrome is mostly unknown due to the limited information available about the disorder and the rarity of the syndrome
• The kidney damage is usually refractory to treatment and typically progresses to end-stage kidney disease. This means that individuals with the condition have kidney damage that is not responsive to treatment measures; and due to this, kidney damage continues to occur resulting in end-stage kidney disease

Additional and Relevant Useful Information for Galloway-Mowat Syndrome:

This syndrome was first described by Galloway-Mowat in 1968.