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(Q04.2) Holoprosencephaly
More details coming soon
170 657 in individuals diagnosis holoprosencephaly confirmed
9 853 deaths with diagnosis holoprosencephaly
6% mortality rate associated with the disease holoprosencephaly
Diagnosis holoprosencephaly is diagnosed Men are 12.30% more likely than Women
95 827
Men receive the diagnosis holoprosencephaly
4 902 (5.1 %)Died from this diagnosis.
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74 830
Women receive the diagnosis holoprosencephaly
4 951 (6.6 %)Died from this diagnosis.
Risk Group for the Disease holoprosencephaly - 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 holoprosencephaly
Absence or low individual and public risk
Holoprosencephaly - what does this mean
Holoprosencephaly is a congenital disorder caused by a failure of the prosencephalon, or forebrain, to divide the brain into two hemispheres during embryonic development. this results in a wide range of physical and neurological abnormalities, including facial malformations, hydrocephalus, and cognitive impairment.
What happens during the disease - holoprosencephaly
Holoprosencephaly is a congenital condition caused by the failure of the prosencephalon (forebrain) to divide into two distinct hemispheres during early fetal development. this failure results in a single central structure instead of two distinct hemispheres and can be accompanied by a variety of associated malformations, including facial abnormalities, cleft lip/palate, and/or cognitive impairment. it is believed that genetic and/or environmental factors may play a role in the development of this condition.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Brain imaging (MRI or ultrasound)
- Genetic testing (blood sample)
- Chromosomal analysis (blood sample)
- Facial features examination
- Neurological examination
- Neuropsychological testing
- Developmental testing
- Metabolic testing (blood sample)
Treatment and Medical Assistance
Main Goal: To reduce the severity of symptoms and improve the quality of life for individuals with holoprosencephaly.
- Medication to control seizures
- Surgery to improve facial features
- Hormone replacement therapy
- Physical therapy
- Occupational therapy
- Speech and language therapy
- Nutrition therapy
- Behavioral therapy
- Educational support
- Assistive technology
15 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Holoprosencephaly - Prevention
Prevention of holoprosencephaly includes avoiding alcohol and drug use during pregnancy, maintaining a healthy diet and weight, and taking a daily folic acid supplement prior to and during pregnancy to reduce the risk.