Galloway Mowat syndrome
Synonyms and keywords: Galloway Syndrome, Hershberger Syndrome, Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type, Nephrocerebellar Syndrome, Nephrosis-Microcephaly Syndrome, Nephrosis-Neuronal Dysmigration Syndrome, Yoder Dystonia

# Overview
Galloway-Mowat syndrome is very rare genetic disorder that is characterized by a variety of physical and developmental abnormalities, particularly neurological abnormalities and early onset progressive kidney disease. Physical features may include microcephaly, (a condition that indicates that the head circumference is significantly smaller than would be expected based upon an infants age and gender) and, in some cases, protrusion of part of the stomach through an abnormal opening in the diaphragm (hiatal hernia). Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements (nystagmus). Infants and children exhibit a delay in obtaining developmental milestones. The majority of affected children do not obtain independent sitting or ambulation or the acquisition of any purposeful hand use or verbal communication. Severe/profound intellectual disability is typically present. Kidney disease is characterized by damage to the clusters of capillaries in the kidneys (focal glomerulosclerosis and/or diffuse mesangial sclerosis) resulting in loss of protein in the urine and abnormal kidney function with associated swelling of the face and peripheries resistant to current medical treatment (steroid resistant nephrotic syndrome). Most affected individuals do not survive beyond teenage years, with the commonest causes of death being nephrotic syndrome or seizures. Galloway-Mowat syndrome appears to be genetically heterogeneous and is believed to be inherited in an autosomal recessive manner, a significant proportion of cases identified to date have been shown to be caused by biallelic alterations (mutations) in the WDR73 gene.

# Historical Perspective
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Galloway-Mowat syndrome was first described in the medical literature in 1968 in two siblings who had microcephaly, hiatal hernia and kidney disease. Consequently, the disorder was also known as microcephaly-hiatal hernia-nephrotic syndrome. However, additional reports of this disorder have shown that affected individuals have neurological manifestations and kidney disease (nephrotic syndrome) as the main characteristics. Hiatal hernia is no longer considered a key feature of the disorder since it does not occur in many affected children.
In 2014, autosomal recessive loss of function mutations in the WDR73 gene were found to account for a significant proportion of Galloway-Mowat syndrome cases.

# Classification
There is no established system for the classification of .
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# Pathophysiology
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# Causes
In 2014, Galloway-Mowat syndrome was shown to be caused by alterations (mutations) in the WDR73 gene in a subset of cases. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular protein, this can affect many organ systems of the body.
Galloway-Mowat syndrome is consistent with autosomal recessive inheritance. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same altered gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.
Although the WDR73 gene has been shown to cause Galloway-Mowat syndrome is certain cases, researchers believe that additional, as-yet-unidentified genes may cause the disorder in other cases (genetic heterogeneity).
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# Differentiating ((Page name)) from Other Diseases
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# Epidemiology and Demographics
Galloway-Mowat syndrome affects males and females in equal numbers. More than 70 cases have been reported in the medical literature. Because cases may go misdiagnosed or undiagnosed, determining the true frequency of Galloway-Mowat syndrome in the general population is difficult. There is a WDR73 founder mutation present at high frequency in the Old Order Amish population, leading to an increased frequency of Galloway-Mowat syndrome within this population.
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# Risk Factors
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# Screening
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# Natural History, Complications, and Prognosis
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# Diagnosis

## Diagnostic Study of Choice
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## History and Symptoms
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## Physical Examination
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## Laboratory Findings
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 is usually normal among patients with .
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## Electrocardiogram
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## X-ray
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## Echocardiography or Ultrasound
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## CT scan
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 CT scan may be helpful in the diagnosis of . Findings on CT scan suggestive of/diagnostic of  include , , and .
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There are no CT scan findings associated with . However, a CT scan may be helpful in the diagnosis of complications of , which include , , and .

## MRI
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 MRI may be helpful in the diagnosis of . Findings on MRI suggestive of/diagnostic of  include , , and .
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There are no MRI findings associated with . However, a MRI may be helpful in the diagnosis of complications of , which include , , and .

## Other Imaging Findings
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 may be helpful in the diagnosis of . Findings on an  suggestive of/diagnostic of  include , , and .

## Other Diagnostic Studies
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# Treatment

## Medical Therapy
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 is a medical emergency and requires prompt treatment.
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## Surgery
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## Primary Prevention
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 vaccine is recommended for  to prevent . Other primary prevention strategies include , , and .

## Secondary Prevention
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