Overview
Spondyloocular syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Atria septal defect
Always present (100%)HP:0001631
Dysplastic aortic valve
Always present (100%)HP:0005176
Mitral valve prolapse
Always present (100%)HP:0001634
Vertebral collapse
Always present (100%)HP:0002953
Abnormality of the eyebrow
Very frequent (80-99%)HP:0000534
Abnormality of the intervertebral disc
Very frequent (80-99%)HP:0005108
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Iris hypopigmentation
Very frequent (80-99%)HP:0007730
Osteoporosis
Very frequent (80-99%)HP:0000939
Retinal detachment
Very frequent (80-99%)HP:0000541
Short neck
Very frequent (80-99%)HP:0000470
Short-trunked dwarfism
Very frequent (80-99%)HP:0003521
Thoracic kyphosis
Very frequent (80-99%)HP:0002942
Visual loss
Very frequent (80-99%)HP:0000572
Aplasia/Hypoplasia of the lens
Frequent (30-79%)HP:0008063
Arachnodactyly
Frequent (30-79%)HP:0001166
Broad chest
Frequent (30-79%)HP:0000914
Dropped arches
Frequent (30-79%)HP:0001763
Duodenal ulcer
Frequent (30-79%)HP:0002588
Femur fracture
Frequent (30-79%)HP:0031846
Impaired vision
Frequent (30-79%)HP:0000505
Lens opacities
Frequent (30-79%)HP:0000518
Long fingers
Frequent (30-79%)HP:0100807
Low facial muscle tone
Frequent (30-79%)HP:0000297
Muscle weakness
Frequent (30-79%)HP:0001324
Nanophthalmos
Frequent (30-79%)HP:0000568
Onset of lymphedema around puberty
Frequent (30-79%)HP:0001004
Overlapping toes
Frequent (30-79%)HP:0001845
Pectus carinatum
Frequent (30-79%)HP:0000768
Quick Facts
- SNOMED CT
- 715653007
- UMLS CUI
- C4225412
- Fully Specified Name
- Spondyloocular 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.