Overview
Stern Lubinsky Durrie syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Anonychia of fingernails
Very frequent (80-99%)HP:0001817
Brachydactyly
Very frequent (80-99%)HP:0001156
Corneal dystrophy
Very frequent (80-99%)HP:0001131
Dental cavities
Very frequent (80-99%)HP:0000670
Dystrophic tooth enamel
Very frequent (80-99%)HP:0000682
Keratoderma
Very frequent (80-99%)HP:0000982
Pachydermia
Very frequent (80-99%)HP:0001072
Photophobia
Very frequent (80-99%)HP:0000613
Short hands
Very frequent (80-99%)HP:0004279
Short stature, severe
Very frequent (80-99%)HP:0003510
Abnormal hands
Frequent (30-79%)HP:0001155
Abnormal metacarpal morphology
Frequent (30-79%)HP:0005916
Abnormalities of the fingers
Frequent (30-79%)HP:0001167
Abnormality of the fingernails
Frequent (30-79%)HP:0001231
Erythema
Frequent (30-79%)HP:0010783
Premature birth
Frequent (30-79%)HP:0001622
Red and swollen gums
Frequent (30-79%)HP:0000230
Deafness
Occasional (5-29%)HP:0000365
Difficulties with night vision
Occasional (5-29%)HP:0000662
Hemeralopia
Occasional (5-29%)HP:0012047
Related Conditions
Autosomal dominant hereditary disorder(parent)
Hereditary corneal dystrophy(parent)
Ectodermal dysplasia with tooth-nail defects(parent)
Hereditary disorder of the integument(parent)
Anterior corneal dystrophy(parent)
Genetic disorder of nail(parent)
Corneal epithelial degeneration(parent)
Developmental hereditary disorder(parent)
Congenital corneal dystrophy(parent)
Hereditary disorder of tooth(parent)
Quick Facts
- SNOMED CT
- 723584003
- UMLS CUI
- C2931506
- Fully Specified Name
- Stern Lubinsky Durrie syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.