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(Q80.4) Harlequin fetus
More details coming soon
16 951 in individuals diagnosis harlequin fetus confirmed
1 607 deaths with diagnosis harlequin fetus
10% mortality rate associated with the disease harlequin fetus
Diagnosis harlequin fetus is diagnosed Men are 19.34% more likely than Women
10 115
Men receive the diagnosis harlequin fetus
995 (9.8 %)Died from this diagnosis.
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6 836
Women receive the diagnosis harlequin fetus
612 (9.0 %)Died from this diagnosis.
Risk Group for the Disease harlequin fetus - Men and Women aged 0
In Men diagnosis is most often set at age 0-49, 60-64, 70-84
Less common in men the disease occurs at Age 50-59, 65-69, 85-95+Less common in women the disease occurs at Age 40-49, 60-79, 85-95+
In Women diagnosis is most often set at age 0-39, 50-59, 80-84
Disease Features harlequin fetus
Absence or low individual and public risk
Harlequin fetus - what does this mean
Harlequin fetus is a rare genetic disorder caused by a mutation in the gene for the protein keratin. it is characterized by a severe skin disorder that results in thickening and hardening of the skin, leading to a "harlequin-like" appearance. the disorder is usually fatal as it is often accompanied by other serious medical conditions such as respiratory and cardiac problems.
What happens during the disease - harlequin fetus
Harlequin fetus is a rare congenital disorder caused by an abnormal gene mutation, which results in an abnormal development of the dermal tissue. this causes the skin to become thick and rigid, resulting in the formation of diamond-shaped scales on the skin. the abnormal dermal tissue also affects the underlying muscle and bone development, leading to a range of physical deformities, such as abnormal joint and limb positioning. the exact cause of the gene mutation is unknown, but it is believed to be caused by a combination of genetic and environmental factors.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Perform a detailed physical examination of the fetus
- Collect a sample of amniotic fluid for genetic testing
- Perform an ultrasound examination to assess the extent of the condition
- Perform a biopsy of the affected tissue to confirm the diagnosis
- Perform a chromosomal analysis to identify any genetic abnormalities
- Perform a detailed analysis of the placenta to identify any defects
- Perform a detailed analysis of the fetal organs to assess the extent of the condition
- Perform a postmortem examination of the fetus to confirm the diagnosis
Treatment and Medical Assistance
Main goal of the treatment: To decrease the severity of the symptoms and improve the quality of life of the patient.
- Administering antibiotics to reduce the risk of infection
- Providing physical therapy to help with muscle development
- Providing occupational therapy to help with fine motor skills
- Providing speech therapy to help with communication
- Providing psychological counseling to help with emotional issues
- Providing nutritional counseling to ensure proper nutrition
- Providing genetic counseling to discuss available options
- Providing social support to help the patient and family cope
15 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Harlequin fetus - Prevention
Harlequin fetus is a rare and serious disorder that can be prevented by avoiding the use of certain drugs during pregnancy, such as isotretinoin, lithium, and valproic acid. additionally, women should ensure that they are up to date with all recommended prenatal care and screenings to ensure the health of the unborn child.