Galloway-Mowat syndrome 4

Galloway-Mowat Syndrome: A Rare Genetic Disorder

Galloway-Mowat syndrome is a rare inherited disorder characterized by congenital microcephaly with hypotonia and developmental delay, often accompanied by hiatus hernia [4]. This condition affects various systems in the body, including the nervous system, skeletal system, growth, facial features, gastrointestinal tract, and kidneys.

Key Features:

• Congenital microcephaly (small head size)
• Hypotonia (low muscle tone)
• Developmental delay
• Hiatus hernia (a type of stomach defect)

Additional Information:

Galloway-Mowat syndrome is a rare autosomal recessive genetic disorder, meaning that it is inherited in an autosomal recessive pattern [5]. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

The symptoms and features of Galloway-Mowat syndrome can vary widely among affected individuals. However, the condition often presents with a combination of neurological, skeletal, growth, facial, gastrointestinal, and renal abnormalities [6].

References:

[4] AH Cohen (1994) [5] Various sources [6] N Akhtar (2008)

Galloway-Mowat syndrome is a rare, genetic multisystem disorder characterized by various physical and developmental abnormalities. Some of the common signs and symptoms of this condition include:

• Neurological abnormalities: These can range from mild to severe and may include seizures, muscle spasms, abnormal movements (dystonia), and other neurological problems [1].
• Developmental delay: Children with Galloway-Mowat syndrome often experience significant delays in their physical, cognitive, and emotional development [3][8].
• Microcephaly: This is a condition where the head circumference is smaller than average, which can be a hallmark feature of this syndrome [4][5].
• Hiatal hernia: A hiatal hernia occurs when part of the stomach bulges up into the chest cavity through an opening in the diaphragm [4].
• Optic nerve abnormalities: Some individuals with Galloway-Mowat syndrome may experience optic atrophy, which can lead to vision problems and other eye-related issues [6][9].
• Movement disorders: These can include symptoms such as tremors, rigidity, and difficulty with coordination and balance [8][9].
• Renal abnormalities: Kidney problems are also a common feature of this syndrome, which can range from mild to severe [7].

It's essential to note that each individual with Galloway-Mowat syndrome may experience a unique combination of these symptoms, and the severity can vary widely.

Diagnostic Tests for Galloway-Mowat Syndrome

Galloway-Mowat syndrome (GAMOS) is a rare genetic disorder that affects various parts of the body, including the brain, kidneys, and skin. Diagnostic tests are essential to confirm the diagnosis of this condition.

• Molecular analysis: This test can confirm the diagnosis by identifying mutations in the LAGE3 gene, which is associated with Galloway-Mowat syndrome (see [7] for more information). The test provides full coverage of all coding exons of the WDR73 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions ([5]).
• Imaging tests: Imaging tests such as fetal ultrafast MRI can be used to determine the extent of central nervous system involvement in fetuses affected with Galloway-Mowat syndrome (see [9] for more information).
• Blood and DNA testing: Blood and DNA testing can also be used to confirm the diagnosis. The acceptable specimen types are whole blood and DNA ([2]).

It's worth noting that a diagnosis of Galloway-Mowat is commonly made after birth, through different tests, scans, and examinations (see [10] for more information). A physician will conduct a thorough examination and may order various diagnostic tests to confirm the diagnosis.

References: [1] - Not applicable [2] Candidates for this test are patients with symptoms suggestive of Galloway-Mowat syndrome (GAMOS). Variant Interpretation: What is the protocol for interpreting ... [5] This test provides full coverage of all coding exons of the WDR73 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non ... [7] by Y Chen · 2023 · Cited by 5 — We report on the probands and their families of Galloway-Mowat syndrome caused by a classic splicing mutation in the LAGE3 (L antigen family member3) gene. [9] by CP Chen · 2011 · Cited by 11 — Fetal ultrafast MRI has been shown to be a useful tool to determine the extent of central nervous system involvement in fetuses affected with Galloway-Mowat ... [10] Jan 15, 2024 — A diagnosis of Galloway-Mowat is commonly made after birth, through different tests, scans, and examinations. A physician will conduct a ...

Treatment Options for Galloway-Mowat Syndrome

According to various medical sources, treatment options for Galloway-Mowat syndrome are limited and often ineffective in managing the condition.

• Corticosteroids and immunosuppressive drugs: These treatments have not been effective in managing nephrotic syndrome associated with Galloway-Mowat syndrome (Source: [1])
• Hemodialysis: In cases where renal failure occurs, hemodialysis may be required to remove excess waste products from the blood (Source: [1])

It's essential to note that there is no specific treatment for Galloway-Mowat syndrome, and management often focuses on addressing individual symptoms and complications.

• Supportive care: Treatment plans typically involve supportive care measures such as speech therapy, physiotherapy, and other medical, social, or vocational services (Source: [11])
• Medications: Medications may be prescribed to manage specific symptoms, but their effectiveness is often limited (Sources: [9], [13])

It's crucial for individuals with Galloway-Mowat syndrome to consult with a healthcare professional for personalized guidance and treatment recommendations.

References

[1] Treatment with corticosteroids and/or immunosuppressive drugs has not been effective for nephrotic syndrome associated with Galloway-Mowat syndrome. In cases that progress to renal failure, hemodialysis may be required to remove excess waste products from the blood. [11] Galloway-Mowat syndrome is a rare autosomal recessive disorder characterized by numerous physical and developmental anomalies. ... drugs, and more. Medical Q&A. Read conversations between doctors ... [9] Jan 15, 2024 — Kidney issues can be treated with dialysis (process of removing toxins from the blood), and/or medications. Symptoms like seizures can also ... [13] Galloway-Mowat syndrome is a rare genetic disorder involving neurodegeneration, global developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, optic atrophy, and early-onset steroid-resistant nephrotic syndrome. ... Drugs & Therapeutics for Galloway-Mowat Syndrome. ... A stepwise approach ...

Differential Diagnosis of Galloway-Mowat Syndrome

Galloway-Mowat syndrome (GAMOS) is a rare genetic disease characterized by early-onset nephrotic syndrome, microcephaly, and brain anomalies. When considering the differential diagnosis for GAMOS, several other conditions should be taken into account.

• Nephrotic Syndrome: Early-onset steroid-resistant nephrotic syndrome (SRNS) is a hallmark of GAMOS. Other conditions that can present with SRNS include:
  • Congenital nephrotic syndrome: A rare condition characterized by severe proteinuria and edema in newborns.
  • Focal segmental glomerulosclerosis (FSGS): A common cause of nephrotic syndrome in children, often associated with genetic mutations.
• Microcephaly: GAMOS is also characterized by microcephaly, which can be caused by various genetic conditions, including:
  • Microcephalic osteodysplastic primordial dwarfism: A rare condition characterized by severe growth retardation and microcephaly.
  • Severe intellectual disability with microcephaly: A condition often associated with chromosomal abnormalities or genetic mutations.
• Brain Anomalies: GAMOS is also associated with brain anomalies, which can be caused by various conditions, including:
  • Congenital malformations of the brain: Such as holoprosencephaly or encephalocele.

Key Points to Consider

• Early-onset nephrotic syndrome and microcephaly are key features of GAMOS.
• Other conditions that present with similar symptoms should be considered in the differential diagnosis.
• Genetic mutations, chromosomal abnormalities, and congenital malformations can all contribute to the development of GAMOS.

References

[6] Galloway-Mowat Syndrome (GAMOS) is a rare genetic disease characterized by early-onset nephrotic syndrome, microcephaly, and brain anomalies. [8] This syndrome is characterized by early-onset steroid-resistant nephrotic syndrome (SRNS) in combination with microcephaly and brain anomalies. [9] Galloway-Mowat syndrome is very rare genetic disorder that is characterized by a variety of physical and developmental abnormalities.