An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations.
We describe a 20-year-old woman with generalized trichodysplasia, dry skin with scaling, hyperchromic spots on limbs, hyperkeratosis (particularly intense on soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc. The condition is probably due to an autosomal recessive gene. The patient is the only affected member in a sibship of four whose parents are second cousins.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002386:Cataract / Q000150:complications; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004476:Ectodermal Dysplasia / Q000150:complications*; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000150:complications; D007642:Keratosis / Q000150:complications; D007738:Kyphosis / Q000150:complications; D009264:Nails, Malformed; D012600:Scoliosis / Q000150:complications; D013577:Syndrome