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Stern-Lubinsky-Durrie syndrome
rareStern-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.
- Identifiers
- MONDO:0007383 OMIM:122440Orphanet:3194
- Also known as
- corneal dystrophy epithelial and short stature · corneo-dermato-osseous syndrome · Stern Lubinsky Durrie syndrome
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