Oculotrichodysplasia

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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 June 2024

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Oculotrichodysplasia?

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