Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Aortic stenosis
Always present (100%)HP:0001650
Barrel chest
Always present (100%)HP:0001552
Delayed maturation of wrist bone
Always present (100%)HP:0001216
Fixed flexion at the elbow joint
Always present (100%)HP:0002987
Increased lumbar lordosis
Always present (100%)HP:0002938
Lingual hyperplasia
Always present (100%)HP:0000158
Rhizomelic limb shortening
Always present (100%)HP:0008905
Short palm
Always present (100%)HP:0004279
Small feet
Always present (100%)HP:0001773
Splayed metaphyses
Always present (100%)HP:0003015
Thoracic kyphosis
Always present (100%)HP:0002942
Tooth hypotrophy
Always present (100%)HP:0000691
Atlantoaxial subluxation
Frequent (30-79%)HP:0003414
Cervical cord compression
Frequent (30-79%)HP:0002341
Flattened vertebral bodies
Frequent (30-79%)HP:0000926
Flexion contractures of hips
Frequent (30-79%)HP:0003273
Hour glass shaped sella turcica
Frequent (30-79%)HP:0002680
Increased size of mandible
Frequent (30-79%)HP:0000303
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Joint instability
Frequent (30-79%)HP:0001382
Limited forearm extension
Frequent (30-79%)HP:0001377
Low intelligence
Frequent (30-79%)HP:0001249
Peripheral hypotonia
Frequent (30-79%)HP:0001252
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Short stature, severe
Frequent (30-79%)HP:0003510
Small pointed chin
Frequent (30-79%)HP:0000307
Brachydactyly
HP:0001156
Cervical subluxation
HP:0003308
Increased distance between eyes
HP:0000316
Missing between one and six teeth
HP:0000668
Quick Facts
- SNOMED CT
- 764460003
- UMLS CUI
- C1846796
- Fully Specified Name
- Spondyloepimetaphyseal dysplasia anauxetic 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.