Corneodermatoosseous syndrome

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Corneodermatoosseous syndrome

Synonyms: CDO syndrome | Stern-Lubinsky-Durrie syndrome

A rare genetic ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities) diffuse palmoplantar hyperkeratosis with thickened erythematous scaly lesions affecting the elbows knees and knuckles distal onycholysis brachydactyly accompanied by a single transverse palmar crease short stature premature birth and increased susceptibility to tooth decay. Ocular symptoms include photophobia reduced night vision burning and watery eyes and varying visual acuity. There have been no further descriptions in the literature since 1984.

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: // Data version September 2023.

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