Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Generalized joint laxity
Very frequent (80-99%)HP:0002761
Kyphoscoliosis
Very frequent (80-99%)HP:0002751
Abnormal formation of the hip
Frequent (30-79%)HP:0001385
Abnormalities of the fingers
Frequent (30-79%)HP:0001167
Congenital kyphoscoliosis
Frequent (30-79%)HP:0008453
Decreased body height
Frequent (30-79%)HP:0004322
Distortion of face
Frequent (30-79%)HP:0001999
Fallen arches
Frequent (30-79%)HP:0001763
Flat facial shape
Frequent (30-79%)HP:0012368
Flattened vertebral bodies
Frequent (30-79%)HP:0000926
Flexion contractures
Frequent (30-79%)HP:0001371
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Frontal protuberance
Frequent (30-79%)HP:0002007
Grey sclerae
Frequent (30-79%)HP:0000592
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased susceptibility to fractures
Frequent (30-79%)HP:0002659
Inverted triangular face
Frequent (30-79%)HP:0000325
Joint dislocation
Frequent (30-79%)HP:0001373
Joint ligamentous laxity
Frequent (30-79%)HP:0001382
Low-set ears
Frequent (30-79%)HP:0000369
Multiple joint contractures
Frequent (30-79%)HP:0002828
Muscular hypotonia
Frequent (30-79%)HP:0001252
Osteopenia
Frequent (30-79%)HP:0000938
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Protruding eyes
Frequent (30-79%)HP:0000520
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Scoliosis
Frequent (30-79%)HP:0002650
Short and small iliac bones
Frequent (30-79%)HP:0000946
Skin hyperelasticity
Frequent (30-79%)HP:0000974
Slender long bones with narrow diaphyses
Frequent (30-79%)HP:0004993
Quick Facts
- SNOMED CT
- 1251488008
- UMLS CUI
- C5680154
- Fully Specified Name
- Spondylodysplastic Ehlers-Danlos syndrome (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.