Galloway Mowat Syndrome - Symptoms, Reasons And Treatment

Galloway-Mowat syndrome is a rare genetic disorder that affects kidney and brain development in children. It is caused by mutations in certain genes that are essential for the normal functioning of these organs. This syndrome typically presents in early childhood and can lead to various complications due to abnormal kidney function and brain abnormalities. Understanding the genetic basis of Galloway-Mowat syndrome is crucial in diagnosing and managing the condition effectively.

By unraveling the underlying genetic factors, healthcare providers can offer tailored care and support to affected individuals and their families. This syndrome highlights the intricate interplay between our genes and the development of vital organs, emphasizing the importance of genetic testing and counseling in such cases.

What Are the Symptoms of Galloway Mowat Syndrome

Galloway-Mowat syndrome typically presents with a range of symptoms affecting the brain and kidneys. Patients may experience developmental delays, intellectual disability, seizures, and abnormal muscle tone. Kidney involvement can lead to proteinuria (excess protein in urine), renal failure, and structural abnormalities in the kidneys.

Additional features may include facial dysmorphism, vision problems, and growth retardation. Early diagnosis and management are crucial to address the various aspects of this rare genetic disorder, and a multidisciplinary approach involving specialists is often necessary for comprehensive care and support.

Galloway-Mowat syndrome may present with intellectual disability, delayed development, and poor muscle tone in affected individuals.
Children with Galloway-Mowat syndrome may experience seizures, which can vary in frequency and severity.
Some individuals with Galloway-Mowat syndrome may exhibit abnormal facial features, such as a prominent forehead or low-set ears.
Impaired vision or hearing difficulties can be additional symptoms of Galloway-Mowat syndrome in some cases.
Galloway-Mowat syndrome may also manifest with kidney abnormalities, leading to issues with kidney function and potentially requiring medical intervention.

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Causes of Galloway Mowat Syndrome

The primary causes of this syndrome are mutations in certain genes that play crucial roles in brain and kidney development. Specifically, mutations in the WDR73 and LAGE3 genes have been identified as key factors contributing to the development of Galloway-Mowat syndrome.

These genetic mutations disrupt normal cellular functions, leading to the symptoms and complications associated with the condition. Understanding the genetic basis of Galloway-Mowat syndrome is essential for accurate diagnosis and potential future treatment strategies.

Genetic mutations are a primary cause of Galloway-Mowat syndrome, impacting essential genes responsible for normal kidney and brain development.
Infections during pregnancy, particularly viral infections, can increase the risk of a child developing Galloway-Mowat syndrome.
Environmental factors such as exposure to toxins or chemicals may contribute to the development of Galloway-Mowat syndrome.
Certain medications taken during pregnancy or early childhood might be linked to the occurrence of Galloway-Mowat syndrome.
In some cases, Galloway-Mowat syndrome can be traced back to a family history of the condition, indicating a genetic predisposition.

Types Of Galloway Mowat Syndrome

There are two main types of Galloway-Mowat syndrome: type 1 and type 2. Type 1 is characterized by the presence of microcephaly, which is an abnormally small head size, along with intellectual disability and early-onset nephrotic syndrome, a kidney disorder. In contrast, type 2 presents with intellectual disability, structural brain abnormalities, and nephrotic syndrome that typically appears later in childhood. Both types share common features such as global developmental delay, seizures, and eye abnormalities, highlighting the complex nature of this syndrome.

Galloway-Mowat syndrome is a rare genetic disorder that primarily affects the brain and kidneys.
The syndrome is characterized by intellectual disability, microcephaly (abnormally small head size), and congenital nephrotic syndrome (kidney disease).
There are several types of Galloway-Mowat syndrome, including type 1, type 2, and type 3, which are distinguished by the underlying genetic mutations.
Type 1 Galloway-Mowat syndrome is caused by mutations in the WDR73 gene, while type 2 is associated with mutations in the LAGE3 gene.
Patients with type 3 Galloway-Mowat syndrome have mutations in the OSGEP gene.

Risk Factors

While the exact cause is not fully understood, several risk factors have been identified. These include genetic mutations in specific genes, such as WDR73 and LAGE3, which are associated with the syndrome. Additionally, family history of the condition or consanguinity (related parents) can increase the risk of a child developing Galloway-Mowat syndrome. Early diagnosis and management are crucial in improving outcomes for individuals affected by this syndrome.

Genetic mutations in the WDR73 gene are a significant risk factor for Galloway-Mowat syndrome.
Family history of the syndrome increases the likelihood of developing Galloway-Mowat syndrome.
Premature birth or low birth weight may contribute to the risk of Galloway-Mowat syndrome.
Exposure to certain environmental toxins or chemicals during pregnancy could be a risk factor for Galloway-Mowat syndrome.
Consanguinity or close blood relations between parents may elevate the risk of Galloway-Mowat syndrome in offspring.

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Diagnosis of Galloway Mowat Syndrome

Laboratory tests such as blood and urine tests may be conducted to assess kidney function and identify any abnormalities. Genetic testing plays a crucial role in confirming the diagnosis, as Galloway-Mowat syndrome is a genetic disorder. Imaging studies such as MRI of the brain can help evaluate structural abnormalities that are characteristic of the condition.

Additionally, a kidney biopsy may be performed to further investigate renal involvement. Collaborating with a team of specialists, including geneticists, nephrologists, and neurologists, is essential in the diagnostic process to ensure accurate and timely identification of Galloway-Mow

Diagnosis of Galloway-Mowat syndrome typically involves genetic testing to identify mutations in specific genes associated with the condition.
A thorough physical examination may reveal characteristic features such as microcephaly and facial dysmorphism.
Imaging studies like MRI scans can help assess brain abnormalities commonly seen in individuals with Galloway-Mowat syndrome.
Laboratory tests may be conducted to evaluate kidney function and identify any associated renal abnormalities.
Consultation with specialists such as geneticists, neurologists, and nephrologists is essential for a comprehensive diagnostic approach.

Treatment for Galloway Mowat Syndrome

Treatment for Galloway-Mowat syndrome typically focuses on managing symptoms and complications associated with the condition. This can include medications to control seizures, dietary modifications to address kidney issues, and physical or occupational therapy to support developmental delays. Regular monitoring by a multidisciplinary team of healthcare providers is crucial to address the diverse needs of individuals with Galloway-Mowat syndrome and optimize their quality of life. In some cases, genetic counseling may also be recommended for families.

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Frequently Asked Questions

What early signs should I look for with galloway mowat syndrome?

Early signs of Galloway-Mowat syndrome may include developmental delays, intellectual disability, seizures, and kidney problems.

What are the recommended do's and don'ts for managing galloway mowat syndrome?

Do: Follow the treatment plan prescribed by your healthcare provider. Don't: Delay seeking medical advice if you notice any new or worsening symptoms.