An ectodermal dysplasia syndrome of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, deafness and other manifestations.
A girl is reported with a hitherto apparently undescribed ectodermal dysplasia syndrome. The main findings include: alopecia, onychodysplasia, hypohidrosis, sensorineural deafness, skin with a tan color and hyperkeratosis (involving also plams and soles), unusual facies (with slight auricle and nose abnormalities), pectus excavatum, severe hyperopia, EEG abnormalities, and retarded bone age. The patient also presents mongoloid palpebral slanting, narrow palpebral fissures, bilateral esotropia, photophobia and dermatoglyphics with extensive ridge dissociation. The etiology is unknown but presumed to be genetic, possibly due to the homozygous state of an autosomal recessive mutation.
D000505:Alopecia / Q000235:genetics; D002648:Child; D003638:Deafness / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics; D007642:Keratosis / Q000235:genetics; D009264:Nails, Malformed; D013577:Syndrome