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Ichthyosis-hypotrichosis syndrome
Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.
ORPHA:91132
Classification level: Disorder
- Hypotrichosis-congenital ichthyosis syndrome
- IFAH syndrome
- IHS
- Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
- Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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