Stern-Lubinsky-Durrie syndrome

MONDO:0007383

Stern-Lubinsky-Durrie syndrome is characterized by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.

Also known as: corneo-dermato-osseous syndrome, CORNEODERMATOOSSEOUS syndrome, Cdo syndrome, Stern Lubinsky Durrie syndrome, corneal dystrophy epithelial and short stature, corneal dystrophy, epithelial, with skin and skeletal changes

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↑ Disorder of visual system (3476) ↑ Ectodermal dysplasia syndrome (45)

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