Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Always present (100%)HP:0004322
Widened metaphyses
Always present (100%)HP:0003016
Antinuclear antibodies
Very frequent (80-99%)HP:0003493
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Metaphyseal dysplasia
Very frequent (80-99%)HP:0100255
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Absolute lymphocyte count decrease
Frequent (30-79%)HP:0001888
Barrel chest
Frequent (30-79%)HP:0001552
Immune thrombocytopenia
Frequent (30-79%)HP:0001973
Increased intervertebral space
Frequent (30-79%)HP:0030320
Increased lumbar lordosis
Frequent (30-79%)HP:0002938
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Joint swelling
Frequent (30-79%)HP:0001386
Mental retardation, mild
Frequent (30-79%)HP:0001256
Neutropoenia
Frequent (30-79%)HP:0001875
Short iliac bones
Frequent (30-79%)HP:0100866
Small midface
Frequent (30-79%)HP:0011800
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Frontal protuberance
Occasional (5-29%)HP:0002007
Hyperostosis of skull base
Occasional (5-29%)HP:0002694
Psychomotor development deficiency
Occasional (5-29%)HP:0001263
Raynaud phenomenon
Occasional (5-29%)HP:0030880
respiratory infections, recurrent
Occasional (5-29%)HP:0002205
SLE
Occasional (5-29%)HP:0002725
Tall shaped head
Occasional (5-29%)HP:0000262
Autoimmune disorder
HP:0002960
Blood spots
HP:0000979
Blotchy loss of skin colour
HP:0001045
Cellular immunodeficiency
HP:0005374
Combined immunodeficiency
HP:0005387
Related Conditions
Quick Facts
- SNOMED CT
- 703523004
- UMLS CUI
- C1842763
- Fully Specified Name
- Spondyloenchondrodysplasia with immune dysregulation (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.