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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
Newly diagnosed with
Ectodermal dysplasia-blindness syndrome?
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National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
For a list of clinical trials in this disease area, please click here.