Corneodermatoosseous syndrome

Orpha code: 3194OMIM code: 122440

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
CDO syndrome
Zespół rogówkowo-skórno-kostny
Stern-Lubinsky-Durrie syndrome
ORPHA code
3194
OMIM code
122440
ICD10 code
H18.5
ICD11 code
-

No additional description.

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