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.
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.