Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Periosteal reaction
Always present (100%)HP:0031485
Bacterial infection of skin
Very frequent (80-99%)HP:0100658
Cortical irregularity
Very frequent (80-99%)HP:0005731
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Hyperesthesia
Frequent (30-79%)HP:0100963
Periosteal thickening of long tubular bones
Frequent (30-79%)HP:0006465
Cortical thickening of long bone diaphyses
Occasional (5-29%)HP:0005791
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
Hypergammaglobulinaemia
Occasional (5-29%)HP:0010702
Prominent globes
Occasional (5-29%)HP:0000520
Respiratory function loss
Occasional (5-29%)HP:0002093
Scoliosis
Occasional (5-29%)HP:0002650
Unbalanced face
Occasional (5-29%)HP:0000324
Bowed lower limbs
HP:0002979
Calvarial hyperostosis
HP:0004490
Joint ligamentous laxity
HP:0001382
Pyrexia
HP:0001945
Thickened cortex of the clavicle
HP:6000936
Thickened cortex of the mandible
HP:6000937
Thickened cortex of the radius
HP:6000811
Thickened cortex of the ulna
HP:6000812
Thickened tibial cortex
HP:6000809
Tibial bowing
HP:0002982
Related Conditions
Quick Facts
- SNOMED CT
- 24752008
- UMLS CUI
- C0020497
- Fully Specified Name
- Infantile cortical hyperostosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.