Overview
Cleidorhizomelic 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.
Abnormal clavicles
Very frequent (80-99%)HP:0000889
Brachydactyly
Very frequent (80-99%)HP:0001156
Curvature of little finger
Very frequent (80-99%)HP:0004209
Rhizomelic limb shortening
Very frequent (80-99%)HP:0008905
Thickening of shaft or central part of long bones
Very frequent (80-99%)HP:0005019
Bilateral single transverse palmar creases
Frequent (30-79%)HP:0007598
Type A3 brachydactyly
HP:0004220
Related Conditions
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Rhizomelic dysplasia(parent)
Small stature(parent)
Congenital anomaly of bone of shoulder girdle(parent)
Congenital anomaly of body wall(parent)
Abnormality of long bone morphology(parent)
Quick Facts
- SNOMED CT
- 719471002
- UMLS CUI
- C1861515
- Fully Specified Name
- Cleidorhizomelic syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 7
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.