Ectodermal dysplasia-blindness syndrome

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Ectodermal dysplasia-blindness syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea) short stature hypotrichosis dental anomalies and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set protruding ears). There have been no further descriptions in the literature since 1992.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version February 2024

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Ectodermal dysplasia-blindness syndrome?

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