Overview
Multiple epiphyseal dysplasia Lowry type 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.
Abnormal development of end part of bone
Very frequent (80-99%)HP:0002656
Brachydactyly
Very frequent (80-99%)HP:0001156
Broad, upturned nose
Very frequent (80-99%)HP:0000455
Cleft of hard palate
Very frequent (80-99%)HP:0410005
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Epiphyseal ossification delay
Very frequent (80-99%)HP:0002663
Flat end part of bone
Very frequent (80-99%)HP:0003071
Fragmented epiphyses
Very frequent (80-99%)HP:0100168
Genu valga
Very frequent (80-99%)HP:0002857
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Mongoloid slant
Very frequent (80-99%)HP:0000582
Pectus deformities
Very frequent (80-99%)HP:0000766
Radial head dislocation
Very frequent (80-99%)HP:0003083
Rhizomelic limb shortening
Very frequent (80-99%)HP:0008905
Short fibula
Very frequent (80-99%)HP:0003038
Small epiphyses
Very frequent (80-99%)HP:0010585
Fixed elbow flexion
Frequent (30-79%)HP:0006471
Inability to straighten knee
Frequent (30-79%)HP:0006380
Quick Facts
- SNOMED CT
- 768935003
- UMLS CUI
- C1832112
- Fully Specified Name
- Multiple epiphyseal dysplasia Lowry type (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.