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.
MONDO:0005328
eye disorder
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities
related