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Doctor insights on: Harlequin Baby Syndrome

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Can you tell me how many babies with harlequin fetus syndrome are born each year?

Can you tell me how many babies with harlequin fetus syndrome are born each year?

Very rare...: Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. Harlequin ichthyosis is very rare; its exact incidence is unknown. Mutations in the abca12 gene cause this disease. The abca12 gene provides instructions for making a protein that is essential for normal skin development. ...Read more

Dr. Julie Abbott
3 doctors shared insights

Harlequin Ichthyosis (Definition)

The most severe form of congenital ichthyosis, causing severe thickening of the stratum corneum (topmost layer), which then fractures into inflexible diamond-shaped plates of skin. Associated deformities involving the eyelids, ears, nose, mouth, and genitalia may be seen. Recent advances in treatment have led to survival to ...Read more


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What is harlequin ichthyosis?

What is harlequin ichthyosis?

Infant skin disorder: Harlequin ichthyosis is a genetic disorder which causes babies to be born with hard, thick skin (like plates). It limits mobility and can lead to respiratory failure. Most often newborns die for the condition. ...Read more

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What are the symptoms of harlequin ichthyosis?

What are the symptoms of harlequin ichthyosis?

The worst form: The features of the sufferers are severe cranial and facial deformities. The ears may be very poorly developed or absent, also the nose. The eyelids are severely everted , which leaves the eyes and the area around them very susceptible to infection. They often bleed upon birth. The lips, pulled by the dry skin, are fixed into a wide grimace .Arms, feet, and fingers are almost always deformed ...Read more

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Could you explain what is harlequin ichthyosis..?

A challenge!: http://ghr.nlm.nih.gov/condition/harlequin-ichthyosis the above link is to a pretty good site that can explain this far better than i can in just 400 characters. I hope this helps you understand this rare condition. ...Read more

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How do they treat people with harlequin ichthyosis?

How do they treat people with harlequin ichthyosis?

Harlequin ichytosis: This is a rare genetic disease which used to be a fatal disease. Today however, retinoids have been used with some degree of success. There is a national organization you can contact.Also you or your doctor can contact the national institute of health who may have a ongoing study on the disease. ...Read more

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An easy explanation as to what causes harlequin ichthyosis?

An easy explanation as to what causes harlequin ichthyosis?

Genetic mutation: This is the most severe form of icthyosis, and is caused by a mutation in abca12 gene. ...Read more

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What is the definition or description of: harlequin ichthyosis?

Severe, congenital: The most severe form of congenital ichthyosis, causing severe thickening of the stratum corneum (topmost layer), which then fractures into inflexible diamond-shaped plates of skin. Associated deformities involving the eyelids, ears, nose, mouth, and genitalia may be seen. Recent advances in treatment have led to survival to adulthood for some patients. ...Read more

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How often do babies with downs syndrome also have problems with vsd?

How often do babies with downs syndrome also have problems with vsd?

50%: About half of babies with down syndrome will have congenital heart disease. The majority will have atrioventricular septal defect, aka av canal or endocardial cushion defect. ...Read more

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What is infant death syndrome?

What is infant death syndrome?

SIDS: Also known as sudden infant death syndrome. This is when an otherwise healthy baby is put down to rest or sleep and when the parent checks on them finds them unresponsive. One theory for this is reflux which can happen during sleep and the infant aspirates stomach contents into the lungs and suffocates. ...Read more