Introduction
AI Gazali-Nair syndrome is a rare congenital disorder that affects multiple body organ systems. The condition is characterized by a combination of features including delayed growth, intellectual disability, abnormal skeletal development, and ocular abnormalities. Gazal and Nair first described the syndrome in 1995. These two scientists first identify the disease in two siblings. Thong reported the syndrome in two siblings born to Malaysian parents. The Malaysian parents have four children out of which only two children were affected. Each died within the first year of life. Sellars reported a male infant with a congenital left mid-humerus fracture and fusion of the radius and ulna at the proximal ends. The infant died during the first year of life due to respiratory failure. The unknown cause can be treated with supportive treatment that can help in managing the symptoms. Early intervention and regular monitoring may improve the outcome. The article discusses AI Gazali-Nair syndrome, its causes, risk factors, symptoms, diagnosis, treatment, and prevention.
What Is AI Gazali-Nair Syndrome?
AI Gazali-Nair syndrome is a genetic disorder that combines the feature of retinopathy, osteogenesis imperfecta, seizures, and intellectual disability. The condition is also known as osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome. Osteogenesis imperfecta affects the bone making them fragile and easily broken. Retinopathy is a condition in which the retina gets damaged leading to vision problems. Seizures are neurological disorders characterized by uncontrolled or sudden electrical activity in the brain that leads to convulsions. Intellectual disability is the impairment in intellectual functioning and adaptive behavior.
What Are the Causes of AI Gazali-Nair Syndrome?
The reason behind the syndrome is a mutation in the ADAMTSL2 gene. The gene is involved in the formation of connective tissue and provides instructions for protein synthesis. The connective tissue is the tissue that connects and supports various structures in the body. The ADAMTSL2 gene is present on chromosome 9.
The affected individual inherits two copies of the mutated gene that is one from each parent to develop the condition. The 25 percent of having AI Gazali-Nair syndrome in children is due to having a mutated gene in their parents. The exact cause of the mutation in ADAMTSL2 is unknown. Some researchers are investigating the mechanism through which gene mutation affects the development of various organ structures in the human body. This can lead to the development of the condition.
What Are the Risk Factors of AI Gazali-Nair Syndrome?
The risk factor or predisposing factor does not mean that the person is having a condition. The person may or may not have the disease. The risk factors increase the chances of developing the condition. The risk factors of the condition are as follows:
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Age: The condition is present at birth and it is a rare congenital disorder.
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Gender: Both males and females may be affected by the disorder.
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Race: Worldwide, people of all races and ethnic groups may be affected.
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Family History: Children of parents who are closely related by blood are at high risk of developing the condition.
What Are the Various Signs and Symptoms of AI Gazali-Nair Syndrome?
The rare genetic disorder causes a variety of signs and symptoms. The common signs and symptoms are as follows:
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Intellectual Disability: An individual with a condition has a varying degree of intellectual disability. It may range from mild to severe. Intellectual functioning originates during the development period. It is also referred to as mental retardation whose IQ is below 70.
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Distinctive Facial Features: People with the syndrome may have hypertelorism (wide-spaced eyes), a prominent forehead, a flattened midface, and micrognathia (a small jaw).
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Skeletal Abnormalities: The condition may lead to skeletal deformities such as joint curvatures, clubfoot, scoliosis (abnormal sideways curvature of the spine), and kyphosis (abnormal curvature of the spine).
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Vision and Hearing Problems: An individual with the condition may have vision and hearing problems including hearing loss and nearsightedness (myopia).
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Optic Atrophy: An individual with the condition may have optic atrophy that occurs due to the death of the retinal ganglion cell axons.
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Retinopathy: It is a non-inflammatory disease of the retina. The retina contains photoreceptors that detect light and send signals to the brain which allows an individual to see.
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Seizures: It is an abnormality in the central nervous system and is also known as epilepsy. Seizures occur due to excessive, sudden discharge of cerebral neurons and lead to loss of consciousness and convulsive movements.
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Wormian Bones: These are irregular isolated bones present in the cranial suture.
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Development Delay: A delay in the development of the child including speech, language, and emotional skills.
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Abnormalities of Hand and Fingers: An individual with the condition may have extra fingers or webbing between the fingers or toes.
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Skin Abnormalities: An individual may have patches of skin that can be darker or lighter than normal skin.
How Can AI Gazali-Nair Syndrome Be Diagnosed?
The diagnosis of the condition can be done on the basis of a combination of clinical examination and genetic testing. During the clinical examination, the doctor may reveal the physical features that are associated with the condition such as widely spaced eyes, abnormalities of the fingers, a small jaw, and a small head size. X-rays can help in checking bone abnormalities. Genetic testing identifies the gene mutation which is associated with the condition.
How Can AI Gazali-Nair Syndrome Be Treated?
There is no specific cure for the condition. Some treatment options can manage the symptoms and quality of life. The multidisciplinary approach includes a pediatrician, an orthopedic surgeon, genetic counselors, and occupational therapists. The treatment options include:
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Early intervention and educational support may help people with developmental delays.
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Occupational and physical therapy may improve motor skills and coordination.
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The doctor may prescribe surgery to correct limb abnormalities.
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Medications may help people with seizures.
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Nutritional support may improve the growth status of an individual.
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Genetic counseling may help the family members to understand the condition.
Conclusion
AI Gazali-Nair syndrome is a congenital disorder that is characterized by growth retardation, facial deformity, limb abnormalities, and intellectual disability. Treatment may manage the symptoms. The multidisciplinary approach includes educational support, genetic counseling, occupational therapy, surgery, and medication that may help people to manage the symptoms and improve their quality of life.