" /> Ectodermal dysplasia - blindness - CISMeF





Preferred Label : Ectodermal dysplasia - blindness;

ICD-11 definition : 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.;

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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.

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05/05/2025


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