Oculotrichodysplasia
Synonyms: Cecato de Lima-Pinheiro syndrome
A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa trichodysplasia (generalized hypotrichosis structural changes) dental anomalies onychodysplasia and dry and scaly skin. There have been no further descriptions in the literature since 1988.
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 http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Oculotrichodysplasia?
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Advocacy Organizations
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.