Stern-Lubinsky-Durrie syndrome

Stern-Lubinsky-Durrie syndrome

Definition

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 — per MONDO

Also identified as