Jalili Syndrome - Causes and Symptoms

Jalili syndrome is a rare genetic disorder that affects various parts of the body. It is caused by mutations in a specific gene, leading to abnormalities in development and function. This syndrome can present challenges for individuals and their families due to its complex nature. Understanding the genetic basis of Jalili syndrome can help healthcare providers better manage the condition and provide appropriate support. If you or a loved one have been diagnosed with Jalili syndrome, it's essential to work closely with a healthcare team knowledgeable about this condition to ensure the best possible care and outcomes. Remember, you are not alone in facing this condition, and there are resources available to help navigate the journey ahead.

What Are the Symptoms of Jalili Syndrome

Jalili syndrome is a rare genetic condition that can cause various symptoms affecting the eyes, ears, and kidneys. Patients with Jalili syndrome may experience visual impairment, hearing loss, and kidney problems. Visual symptoms can include night blindness, decreased visual acuity, and sensitivity to light. Hearing loss in Jalili syndrome can range from mild to severe and may be present from birth or develop over time. Kidney issues associated with the syndrome can lead to problems with kidney function. Individuals with Jalili syndrome may also exhibit other unique features, and the severity of symptoms can vary among affected individuals.

Jalili syndrome may present with visual impairment, including night blindness and decreased visual acuity.
Individuals with Jalili syndrome may experience hearing loss, particularly affecting high-frequency sounds.
Some patients with Jalili syndrome may develop abnormal bone growth or skeletal abnormalities.
Progressive kidney disease, such as nephronophthisis, is a common complication of Jalili syndrome.
Children with Jalili syndrome may exhibit developmental delays or intellectual disability.

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Causes of Jalili Syndrome

These mutations disrupt the body's ability to regulate magnesium levels, leading to a variety of symptoms such as intellectual disability, seizures, and visual impairments. While the exact mechanisms are still being studied, the role of CNNM4 in magnesium transport and homeostasis is crucial in understanding the pathophysiology of Jalili syndrome. Additionally, genetic factors play a significant role in the development of this condition, highlighting the importance of further research into its genetic underpinnings.

Jalili syndrome can be caused by mutations in the CNNM4 gene, leading to abnormal development of the eye's retina.
In some cases, Jalili syndrome is inherited in an autosomal recessive pattern, with both parents carrying a mutated gene.
Environmental factors or unknown genetic triggers may also contribute to the development of Jalili syndrome.
Certain ethnic populations may have a higher prevalence of Jalili syndrome due to genetic predisposition and familial patterns.
Research suggests that disruptions in ion transport mechanisms within retinal cells may play a role in the pathogenesis of Jalili syndrome.

Types Of Jalili Syndrome

Jalili syndrome, also known as cone-rod dystrophy and amelogenesis imperfecta, encompasses two main types. Type 1 involves severe vision impairment due to retinal degeneration in the cones and rods, leading to color vision defects and night blindness. Additionally, affected individuals may exhibit dental abnormalities such as enamel defects. Type 2, on the other hand, is characterized by progressive vision loss, starting with color vision deficiencies and advancing to complete blindness. Dental issues, including enamel defects, may also be present in type 2 Jalili syndrome. Early diagnosis and management are crucial in addressing the symptoms and improving the quality of life for individuals with this rare genetic disorder.

It is characterized by vision impairment due to cone-rod dystrophy, which affects color perception and central vision.
Individuals with Jalili syndrome also exhibit dental abnormalities such as enamel defects and tooth discoloration.
The syndrome is caused by mutations in the CNNM4 gene, which plays a role in the development of both the eyes and teeth.
Treatment for Jalili syndrome is focused on managing symptoms and providing supportive care to improve quality of life.

Risk Factors

The condition is inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene for their child to be affected. While the specific gene responsible for Jalili syndrome is known as C2orf71, little is understood about the precise risk factors that may contribute to the development of this condition. Research is ongoing to further elucidate the genetic and environmental factors that may influence the manifestation of Jalili syndrome.

Inheritance of autosomal recessive genes from both parents increases the risk of Jalili syndrome.
Consanguineous marriages within families with a history of the syndrome can elevate the likelihood of Jalili syndrome.
Certain ethnic groups, such as individuals of Middle Eastern descent, have a higher predisposition to developing Jalili syndrome.
Exposure to environmental factors or toxins during pregnancy may contribute to the development of Jalili syndrome in offspring.
Advanced maternal age at the time of conception is associated with an increased risk of having a child with Jalili syndrome.

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Diagnosis of Jalili Syndrome

Ophthalmologic assessments, including fundus examination and electroretinography, play a crucial role in identifying the characteristic features of the syndrome, such as cone-rod dystrophy and macular atrophy. Genetic testing, particularly targeted sequencing of known causative genes like C8orf37, is essential for confirming the diagnosis. Consultation with various specialists, such as ophthalmologists and genetic counselors, may be necessary to facilitate the diagnostic process and ensure accurate identification of Jalili syndrome.

Diagnosis of Jalili syndrome typically involves genetic testing to identify mutations in the CNNM4 gene.
Ophthalmic examinations are crucial for detecting characteristic retinal abnormalities associated with Jalili syndrome.
Electroretinography (ERG) can help evaluate retinal function in individuals suspected of having Jalili syndrome.
Hearing tests such as audiometry are essential to assess auditory function in individuals with suspected Jalili syndrome.
Close monitoring of electrolyte levels may be necessary due to the renal tubular dysfunction seen in Jalili syndrome.

Treatment for Jalili Syndrome

Treatment options focus on addressing the specific symptoms present in each individual. This may involve interventions such as hearing aids or cochlear implants to manage hearing loss, while vision impairment may benefit from corrective lenses, low vision aids, or in some cases, surgery.

Early diagnosis and regular monitoring by a team of specialists, including ophthalmologists, otolaryngologists, and genetic counselors, are crucial in providing tailored care to improve the quality of life for individuals with Jalili syndrome.

Jalili syndrome, also known as cone-rod dystrophy and amelogenesis imperfecta, is a rare genetic disorder that affects both vision and dental health. Treatment for Jalili syndrome typically involves a multidisciplinary approach, tailored to the individual's specific symptoms and needs. In terms of vision management, individuals with Jalili syndrome may benefit from regular eye examinations to monitor the progression of the condition.

Corrective lenses or visual aids such as magnifiers may be prescribed to help improve visual acuity. For individuals with more advanced vision impairment due to Jalili syndrome, low-vision rehabilitation services can provide training and support to maximize remaining vision and enhance daily living skills.

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