Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues.
An unique autosomal recessive ectodermal dysplasia is present in 5 sibs from the Indian Ocean island of Rodrigues. The main manifestations are total congenital alopecia, bilateral congenital cataracts, and skin changes of the hands and feet including sclerodactyly, hyperkeratosis, contractures, and pseudoainhum formation. The phenotype differs from that of other genetic ectodermal dysplasias and independent syndromic status is probable.
Department of Human Genetics, University of Cape Town, Medical School, South Africa.
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D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D000505:Alopecia / Q000151:congenital* / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002648:Child; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D010375:Pedigree; D012594:Scleroderma, Localized / Q000151:congenital* / Q000235:genetics