Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.

Also known as: RODRIGUES blindness, microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities, microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities

0 clinical trials for this condition and its sub-types, 0 tagged with Ectodermal dysplasia-blindness syndrome itself.