Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent bone maturation of skullcap
Always present (100%)HP:0005623
Bell-shaped chest
Always present (100%)HP:0001591
Crumpled long bones
Always present (100%)HP:0006367
Multiple prenatal fractures
Always present (100%)HP:0005855
Multiple rib fractures
Always present (100%)HP:0006640
Short limbs
Always present (100%)HP:0009826
Slender ribs
Always present (100%)HP:0000883
Thoracic hypoplasia
Always present (100%)HP:0005257
Abnormality of pelvic girdle bone morphology
HP:0002644
Birth weight less than 10th percentile
HP:0001518
Dwarfism, short-limbed
HP:0008873
Extra bones within cranial sutures
HP:0002645
Flattened vertebral bodies
HP:0000926
Grey sclerae
HP:0000592
Heart failure
HP:0001635
Hooked nose
HP:0000444
Nonimmune hydrops fetalis
HP:0001790
Premature birth
HP:0001622
Puolmonary valve insufficiency
HP:0010444
Recurrent fractures
HP:0002757
Respiratory function loss
HP:0002093
Thin skin
HP:0000963
Tibial bowing
HP:0002982
Wide bregma sutures
HP:0000239
Widened long bones
HP:0005622
Related Conditions
Quick Facts
- SNOMED CT
- 254110009
- UMLS CUI
- C0268358
- Fully Specified Name
- Osteogenesis imperfecta type IIA (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.