Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Dwarfism, short-limbed
Always present (100%)HP:0008873
Pectus carinatum
Always present (100%)HP:0000768
Aplasia/hypoplasia involving bones of the extremities
Very frequent (80-99%)HP:0045060
Splayed metaphyses
Very frequent (80-99%)HP:0003015
Abnormally ossified vertebrae
Frequent (30-79%)HP:0100569
Brachydactyly
Frequent (30-79%)HP:0001156
Cervical instability
Frequent (30-79%)HP:0008462
Clinodactyly
Frequent (30-79%)HP:0030084
Coxa vara
Frequent (30-79%)HP:0002812
Deafness
Frequent (30-79%)HP:0000365
Decreased projection of lower jaw
Frequent (30-79%)HP:0000347
Flat facial shape
Frequent (30-79%)HP:0012368
Hypoplastic pubis
Frequent (30-79%)HP:0003173
Increased distance between eyes
Frequent (30-79%)HP:0000316
Near sighted
Frequent (30-79%)HP:0000545
Retraction of the tongue
Frequent (30-79%)HP:0000162
shortened long tubular bones
Frequent (30-79%)HP:0003026
Small epiphyses
Frequent (30-79%)HP:0010585
Small odontoid peg
Frequent (30-79%)HP:0003311
Thickened facial skin with coarse facial features
Frequent (30-79%)HP:0000280
Vertebral anomalies
Frequent (30-79%)HP:0003468
Delayed maturation of wrist bone
Occasional (5-29%)HP:0001216
Flattened vertebral bodies
Occasional (5-29%)HP:0000926
Laryngotracheomalacia
Occasional (5-29%)HP:0008755
Limited hip movement
Occasional (5-29%)HP:0008800
Respiratory problem
Occasional (5-29%)HP:0002795
Restricted large joint movement
Occasional (5-29%)HP:0005193
Rotting teeth
Occasional (5-29%)HP:0000670
Spinal cord compression
Occasional (5-29%)HP:0002176
Abdominal protuberance
HP:0001538
Quick Facts
- SNOMED CT
- 702350003
- UMLS CUI
- C0700635
- Fully Specified Name
- Spondyloepimetaphyseal dysplasia, Strudwick type (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.