Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Always present (100%)HP:0004322
Diminished sulfotransferase activity in cultured fibroblasts
Always present (100%)HP:6000970
Dislocations of the knees
Always present (100%)HP:0004976
Fetal foot inversion
Always present (100%)HP:0001762
Limited hip extension
Always present (100%)HP:0003093
Radial head dislocation
Always present (100%)HP:0003083
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormality of the elbow
Very frequent (80-99%)HP:0009811
Flexion contractures
Very frequent (80-99%)HP:0001371
Genu valga
Very frequent (80-99%)HP:0002857
Irregular end part of long bone
Very frequent (80-99%)HP:0010582
Narrow intervertebral disc spaces
Very frequent (80-99%)HP:0002945
Prominent joints
Very frequent (80-99%)HP:0003037
Scoliosis
Very frequent (80-99%)HP:0002650
Short-trunked dwarfism
Very frequent (80-99%)HP:0003521
Small epiphyses
Very frequent (80-99%)HP:0010585
Sparse eyebrow
Very frequent (80-99%)HP:0045075
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Back knee
Frequent (30-79%)HP:0002816
Delayed motor milestones
Frequent (30-79%)HP:0001270
Feet or buttocks of fetus positioned near opening of uterus
Frequent (30-79%)HP:0001623
Increased length of philtrum
Frequent (30-79%)HP:0000343
Increased width of the forehead
Frequent (30-79%)HP:0000337
Thick, flared eyebrows
Frequent (30-79%)HP:0002553
Aortic stenosis
HP:0001650
Aortic valve regurgitation
HP:0001659
Arthralgias
HP:0002829
Barrel chest
HP:0001552
Bilateral single transverse palmar creases
HP:0007598
Brachydactyly
HP:0001156
Related Conditions
Quick Facts
- SNOMED CT
- 702400006
- UMLS CUI
- C1837657
- Fully Specified Name
- Spondyloepiphyseal dysplasia with congenital joint dislocations (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.