A congenital ichthyosiform syndrome with deafness and keratitis.
This is a report on two children with a syndrome characterized by an extensive congenital ichthyosiform eruption, neurosensory deafness, hypotrichosis, partial anhidrosis, and vascularization of the cornea. The facial involvement is distinctive. Other features are dystrophy of the nails and tight heel cords. Both children are of normal intelligence. The inheritance pattern is unknown.
D002648:Child; D003638:Deafness / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000150:complications; D007039:Hypotrichosis / Q000150:complications; D007057:Ichthyosis / Q000150:complications / Q000151:congenital* / Q000473:pathology; D007634:Keratitis / Q000150:complications*; D007642:Keratosis / Q000473:pathology; D013577:Syndrome