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Disease name
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Ichthyosis congenita, harlequin type
Ichthyosis congenita, harlequin type
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Marker gene
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Gene symbol
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Chromosome location
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Protein name
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ABCA12
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2q35 |
ATP-binding cassette sub-family A member 12 |
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Prevalence
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<1 / 1 000 000 |
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Inheritance
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상염색체 열성 |
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Age of onset
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신생아기, 영아기 |
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ICD 10 code
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Q80.4 |
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MIM number
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242500
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Summary
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Harlequin fetus syndrome is a keratinisation disorder due probably to a cutaneous lipid anomalies. It is characterized by hyperkeratosis forming plates and grooves that look like harlequin`s costume. Those affected usually die within the first weeks of life. The disease is transmitted as an autosomal recessive trait. Prenatal diagnosis can be made by performing a skin biopsy in utero and analyzing it under electron microscopy. |
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