Al Gazali Sabrinathan Nair Syndrome - DoveMed (original) (raw)
What are the other Names for this Condition? (Also known as/Synonyms)
- Al Gazali-Nair Syndrome
- Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
What is Al Gazali Sabrinathan Nair Syndrome? (Definition/Background Information)
- Al Gazali Sabrinathan Nair Syndrome, or Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome, is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay
- It has been described in two siblings born to consanguineous parents
(Source: Osteogenesis imperfect-retinopathy-seizures-intellectual disability syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)
Who gets Al Gazali Sabrinathan Nair Syndrome? (Age and Sex Distribution)
- Al Gazali Sabrinathan Nair Syndrome is an extremely rare congenital disorder. The presentation of symptoms may occur at birth
- Both males and females may be affected
- Worldwide, individuals of all racial and ethnic groups may be affected
What are the Risk Factors for Al Gazali Sabrinathan Nair Syndrome? (Predisposing Factors)
- Children of parents who are closely related (by blood) have a very high risk for Al Gazali Sabrinathan Nair Syndrome
- Currently, no risk factors have been clearly identified for this syndrome
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Al Gazali Sabrinathan Nair Syndrome? (Etiology)
The exact cause of development of Al Gazali Sabrinathan Nair Syndrome is presently unknown.
What are the Signs and Symptoms of Al Gazali Sabrinathan Nair Syndrome?
The signs and symptoms of Al Gazali Sabrinathan Nair Syndrome may include: (Very frequently present symptoms in 80-99% of the cases)
- Abnormality of vision
- Intellectual disability
- Optic atrophy
- Recurrent fractures
- Seizures
- Severe global developmental delay
- Wormian bones
(Source: Osteogenesis imperfect-retinopathy-seizures-intellectual disability syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)
How is Al Gazali Sabrinathan Nair Syndrome Diagnosed?
Al Gazali Sabrinathan Nair Syndrome is diagnosed on the basis of the following information:
- Complete physical examination
- Thorough medical history evaluation
- Assessment of signs and symptoms
- Laboratory tests
- Imaging studies
- Biopsy studies, if necessary
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Al Gazali Sabrinathan Nair Syndrome?
The complications of Al Gazali Sabrinathan Nair Syndrome may include:
- Visual impairment
- Neurological deficit
- Reduced quality of life
Complications may occur with or without treatment, and in some cases, due to treatment also.
How is Al Gazali Sabrinathan Nair Syndrome Treated?
Presently, there is no cure for Al Gazali Sabrinathan Nair Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.
How can Al Gazali Sabrinathan Nair Syndrome be Prevented?
- Currently, Al Gazali Sabrinathan Nair Syndrome may not be preventable, since the cause of this disorder is unknown
- Regular medical screening at periodic intervals with tests and physical examinations are recommended
What is the Prognosis of Al Gazali Sabrinathan Nair Syndrome? (Outcomes/Resolutions)
- The prognosis of Al Gazali Sabrinathan Nair Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
- Individuals with mild conditions have better prognosis than those with severe symptoms and complications
- Typically, the prognosis may be assessed on a case-by-case basis
Additional and Relevant Useful Information for Al Gazali Sabrinathan Nair Syndrome:
The following DoveMed website link is a useful resource for additional information: