Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bowed femura
Always present (100%)HP:0002980
Brachydactyly
Always present (100%)HP:0001156
Camptodactyly
Always present (100%)HP:0012385
Dwarfism, short-limbed
Always present (100%)HP:0008873
Flattened vertebral bodies
Always present (100%)HP:0000926
Genu valga
Always present (100%)HP:0002857
Horizontal ribs
Always present (100%)HP:0000888
Humeral bowing
Always present (100%)HP:0003865
Hypoplastic femoral neck
Always present (100%)HP:0100864
Hypoplastic fourth metacarpal
Always present (100%)HP:0010044
Hyposegmentation of neutrophil nuclei
Always present (100%)HP:0011447
Inability to straighten knee
Always present (100%)HP:0006380
Irregular metaphyses
Always present (100%)HP:0003025
Limited forearm extension
Always present (100%)HP:0001377
Metaphyseal cupping
Always present (100%)HP:0003021
Metaphyseal dysplasia
Always present (100%)HP:0100255
Ovoid vertebral bodies
Always present (100%)HP:0003300
Prominent swayback
Always present (100%)HP:0003307
Radial bowing
Always present (100%)HP:0002986
Rhizomelic limb shortening
Always present (100%)HP:0008905
Short 5th metacarpal
Always present (100%)HP:0010047
short stature, mild
Always present (100%)HP:0003502
shortened long tubular bones
Always present (100%)HP:0003026
Splayed metaphyses
Always present (100%)HP:0003015
Thoracic hypoplasia
Always present (100%)HP:0005257
Thoracic platyspondyly
Always present (100%)HP:0004592
Thoracolumbar gibbus deformity
Always present (100%)HP:0005619
Abdominal protuberance
Frequent (30-79%)HP:0001538
Broad big toe
Frequent (30-79%)HP:0010055
Decreased projection of midface
Frequent (30-79%)HP:0011800
Quick Facts
- SNOMED CT
- 1237412001
- UMLS CUI
- C4747922
- Fully Specified Name
- Regressive spondylometaphyseal dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.