Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent corneal reflex
Always present (100%)HP:0034252
Body temperature changes
Always present (100%)HP:0004370
Bowed femura
Always present (100%)HP:0002980
Camptodactyly
Always present (100%)HP:0012385
Camptodactyly of 5th finger
Always present (100%)HP:0009185
Chubby cheeks
Always present (100%)HP:0000293
Decreased hair growth
Always present (100%)HP:0008070
Decreased volume of lip vermillion
Always present (100%)HP:0000233
Dental cavities
Always present (100%)HP:0000670
Enophthalmos
Always present (100%)HP:0000490
Feeding difficulties
Always present (100%)HP:0011968
Low-set ears
Always present (100%)HP:0000369
Metaphyseal rarefaction
Always present (100%)HP:0004980
Nostrils anteverted
Always present (100%)HP:0000463
Predisposition to infections
Always present (100%)HP:0002719
Prominent columella
Always present (100%)HP:0009765
Pyrexia
Always present (100%)HP:0001945
Respiratory insufficiency
Always present (100%)HP:0002093
Short palpebral fissure
Always present (100%)HP:0012745
Thickening of shaft or central part of long bones
Always present (100%)HP:0005019
Wide nasal base
Always present (100%)HP:0012810
Abnormal compact bone morphology
Very frequent (80-99%)HP:0003103
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormality of vision
Very frequent (80-99%)HP:0000504
Autonomic dysregulation
Very frequent (80-99%)HP:0012332
Bowed long bones
Very frequent (80-99%)HP:0006487
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased sweating
Very frequent (80-99%)HP:0000966
Eye disease
Very frequent (80-99%)HP:0000478
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Related Conditions
Quick Facts
- SNOMED CT
- 254097005
- UMLS CUI
- C0796176
- Fully Specified Name
- Stuve-Wiedemann dysplasia (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.