infants






 

Question by  raviteja (26)

What causes the Harlequin Baby Syndrome?

It's also called harlequin ichthyosis.

 
+8

Answer by  Deem (199)

Harlequin baby syndrome is a congenital condition, caused by a gene mutation that affects the proteins necessary for skin to grow normally. Because the genes involved are recessive, each parent must have the gene and pass it on to the child for the child to actually suffer from Harlequin Baby Syndrome.

 
+5

Answer by  LeheckaG (1826)

Harlequin-type ichthyosis is caused by a genetic-disorder, either inherited or a mutation; milder cases might be caused by a Vitamin-A deficiency. In severe cases, the skin's keratin-layer thickens and appears like diamond-shaped scales. It can be diagnosed either via amniocentisis of by modern (3D) ultra-sound techniques. Isotretinoin(Isotrex) can be used to treat it; previously victims died within a few days.

 
+5

Answer by  G12345 (1808)

It is caused by autosomal recessive inheritence of a defect in the ABCA12 gene that is involved in normal skin maturation.

 
+5

Answer by  Joe12 (189)

Harlequin ichthyosis, a skin disease in which the skin contains diamond-shaped scales, is a genetic disorder, and it can usually be identified through ultrasound when the fetus is still in the womb.

 
You have 50 words left!