A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.
This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.
D002386:Cataract / Q000150:complications; D002648:Child; D004476:Ectodermal Dysplasia / Q000150:complications*; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007007:Hypohidrosis / Q000150:complications; D010859:Pigmentation Disorders / Q000150:complications; D011596:Psychomotor Disorders / Q000150:complications; D013577:Syndrome