Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Multiple exostoses
Always present (100%)HP:0002762
Chondrosarcoma
Occasional (5-29%)HP:0006765
Decreased body height
Very rare (1-4%)HP:0004322
Cervical spondylotic myelopathy
HP:0002318
Coxa vara
HP:0002812
Genu valga
HP:0002857
Madelung-like forearm deformities
HP:0003068
Pelvic bone exostoses
HP:0003276
Peripheral nerve compression
HP:0003406
Protuberances at ends of long bones
HP:0003105
Rib exostoses
HP:0000896
Shortened long bones of hand
HP:0010049
Shoulder bone exostoes
HP:0000918
Related Conditions
Connective tissue hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Disorder characterised by multiple exostoses(parent)
Disorganised development of cartilaginous and fibrous components of the skeleton(parent)
Autosomal dominant hereditary disorder(parent)
Neoplasm of uncertain behavior of bone(parent)
Osteochondropathy(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 254044004
- UMLS CUI
- C0015306
- Fully Specified Name
- Multiple congenital exostosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.