Here is a straightforward overview of Fraser syndrome, a rare genetic disorder that affects multiple systems in the body.
Causes
Mutations in the FRAS1, FREM2, or GRIP1 genes are primarily responsible for Fraser syndrome, which affects tissue and organ development during embryonic development. The characteristic features of this syndrome result from genetic mutations disrupting normal development. Fraser syndrome is usually inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene to see the condition in their child.
Symptoms
Affected individuals can experience a wide range of symptoms, but they generally include:
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As a result of cryptophthalmos, the eyelids fail to separate completely, causing fused eyelids and obscured vision.
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The fusion of fingers or toes, which may range in severity from partial fusion to complete webbing.
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Abnormalities of the kidneys, ureters, and genitalia, including hypospadias in males and structural abnormalities in females.
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Chianoal atresia (blockage of the nasal passages) is an example of a respiratory tract anomaly.
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An excessive appetite or compulsive eating behavior that can lead to obesity if left untreated.
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Cleft lip and palate, ear abnormalities, skeletal anomalies, and developmental delays may also occur.
Diagnosis
For the diagnosis of Fraser syndrome, a comprehensive clinical evaluation, medical history assessment, and physical examination are typically required. To confirm the diagnosis and identify mutations in the FRAS1, FREM2, or GRIP1 genes, genetic testing may be recommended. To evaluate internal organ abnormalities, ultrasound, X-rays, or magnetic resonance imaging (MRI) may be used.
Treatment
Fraser syndrome is mostly treated by managing symptoms and complications. Treatment options include:
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A surgical intervention may be required to correct structural abnormalities such as cryptophthalmos, syndactyly, or genitourinary malformations.
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Specific complications such as respiratory tract anomalies or urinary tract infections may require medical intervention.
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A multidisciplinary team, including pediatricians, geneticists, ophthalmologists, urologists, and surgeons, can provide the individual with comprehensive care and support.
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Individuals with developmental delays or functional impairments may benefit from supportive therapies such as physical therapy, occupational therapy, and speech therapy.
Prevention
The condition Fraser syndrome is primarily caused by genetic mutations, so there are currently no known preventative measures in place to prevent it. In order to understand the risk of passing on Fraser syndrome to future generations as well as explore reproductive options, genetic counseling may be recommended for families with a history of Fraser syndrome or individuals carrying mutations in the associated genes.
The Fraser syndrome is a rare genetic disorder characterized by developmental abnormalities affecting various body systems. Clinical evaluation, genetic testing, and imaging studies are used to diagnose the condition, while treatment focuses on managing symptoms and complications. It is not possible to prevent Fraser syndrome, but supportive care and multidisciplinary interventions can help improve outcomes and quality of life.
