Stern-Lubinsky-Durrie syndrome
Findings
No curated finding names Stern-Lubinsky-Durrie syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007383), read 2026-09-29. CC BY 4.0.
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal dental enamel morphologyHPOHP:0000682
- Very frequent (80% to 99% of cases)
- Absent fingernailHPOHP:0001817
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Carious teethHPOHP:0000670
- Very frequent (80% to 99% of cases)
- Corneal dystrophyHPOHP:0001131
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
Show the remaining 8
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
- Abnormality of the handHPOHP:0001155
- Frequent (30% to 79% of cases)
- ErythemaHPOHP:0010783
- Frequent (30% to 79% of cases)
- GingivitisHPOHP:0000230
- Frequent (30% to 79% of cases)
- Premature birthHPOHP:0001622
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: Stern-Lubinsky-Durrie syndrome
- Also called
- corneo-dermato-osseous syndrome