Overview
Autosomal dominant brachyolmia 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.
Disproportionate short-trunk short stature, identifiable in childhood
Always present (100%)HP:0008922
Decreased body height
Very frequent (80-99%)HP:0004322
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Increased vertebral height
Very frequent (80-99%)HP:0004570
Kyphoscoliosis
Very frequent (80-99%)HP:0002751
Shorter than typical length between neck and abdomen
Very frequent (80-99%)HP:0010306
Abnormal metaphysis morphology
Occasional (5-29%)HP:0000944
Barrel chest
HP:0001552
Clinodactyly
HP:0030084
Hunched back
HP:0002808
Hyperopia
HP:0000540
Hypoplastic femoral neck
HP:0100864
Nonprogressive mental retardation
Excluded (<1%)HP:0001249
Proximal femoral metaphyseal irregularity
HP:0003411
Radial deviation of finger
HP:0009466
Scoliosis
HP:0002650
Short neck
HP:0000470
Spinal cord compression
HP:0002176
Related Conditions
Quick Facts
- SNOMED CT
- 717264003
- UMLS CUI
- C0432227
- Fully Specified Name
- Autosomal dominant brachyolmia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.