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 October 2023.
Newly diagnosed with
Ectodermal dysplasia-blindness syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.