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(Q04.4) Septo-optic dysplasia
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170 657 in individuals diagnosis septo-optic dysplasia confirmed
9 853 deaths with diagnosis septo-optic dysplasia
6% mortality rate associated with the disease septo-optic dysplasia
Diagnosis septo-optic dysplasia is diagnosed Men are 12.30% more likely than Women
95 827
Men receive the diagnosis septo-optic dysplasia
4 902 (5.1 %)Died from this diagnosis.
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74 830
Women receive the diagnosis septo-optic dysplasia
4 951 (6.6 %)Died from this diagnosis.
Risk Group for the Disease septo-optic dysplasia - Men aged 0 and Women aged 0-5
In Men diagnosis is most often set at age 0-54, 60-69
Less common in men the disease occurs at Age 55-59, 70-95+Less common in women the disease occurs at Age 75-95+
In Women diagnosis is most often set at age 0-74
Disease Features septo-optic dysplasia
Absence or low individual and public risk
Septo-optic dysplasia - what does this mean
Septo-optic dysplasia is a rare congenital disorder caused by the abnormal development of the optic nerve and midline structures of the brain, including the septum pellucidum. this leads to a range of associated symptoms, including vision problems, developmental delays, endocrine abnormalities, and seizures.
What happens during the disease - septo-optic dysplasia
Septo-optic dysplasia is a congenital disorder caused by abnormal development of the midline structures of the brain, including the optic nerve, hypothalamus, and pituitary gland. it is believed that a combination of genetic and environmental factors lead to the abnormal development of these structures, resulting in vision and endocrine problems. in addition, the midline structures may be affected by abnormal migration of cells during early development, or by a lack of growth factor signaling.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Physical examination
- Neurological examination
- Optical examination
- MRI scan of the brain
- CT scan of the brain
- EEG
- Genetic testing
- Ophthalmologic evaluation
Treatment and Medical Assistance
Main goal of the treatment: To improve the quality of life of the patient with Septo-optic dysplasia.
- Regular monitoring of vision and hearing
- Regular medical check-ups
- Early intervention therapies
- Regular assessment of physical and mental development
- Regular ophthalmologic and neurologic examinations
- Regular magnetic resonance imaging (MRI) scans
- Regular genetic testing
- Appropriate medications to manage associated conditions
- Occupational therapy
- Speech therapy
- Physical therapy
- Nutritional counseling
- Counseling for family and patient
15 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Septo-optic dysplasia - Prevention
Prevention of septo-optic dysplasia is best achieved through genetic counseling, pre-natal diagnosis, and early intervention. it is important for expecting parents to be aware of the risk factors associated with the condition, such as a family history of the disorder, and to discuss these risks with their healthcare provider. genetic testing is available to identify the presence of the condition prior to birth. early intervention is key for addressing the medical and developmental needs of those affected by septo-optic dysplasia.