Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Always present (100%)HP:0004322
Hyperplasia of supraorbital ridge
Always present (100%)HP:0000336
Premature osteoarthritis
Always present (100%)HP:0003088
Short 5th metacarpal
Always present (100%)HP:0010047
Abnormal pelvis bone morphology
Very frequent (80-99%)HP:0040163
Abnormal shape of joints
Very frequent (80-99%)HP:0001367
Flat midface
Very frequent (80-99%)HP:0011800
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Short stature, severe disproportionate
Very frequent (80-99%)HP:0003498
Vertebral anomalies
Very frequent (80-99%)HP:0003468
Abnormal development of end part of bone
Frequent (30-79%)HP:0002656
Abnormal iliac wing morphology
Frequent (30-79%)HP:0011867
Abnormal shape of long bone
Frequent (30-79%)HP:0011314
Brachydactyly
Frequent (30-79%)HP:0001156
Cleft of palate
Frequent (30-79%)HP:0000175
Dumbbell-shaped thighbone
Frequent (30-79%)HP:0006375
Flat facial shape
Frequent (30-79%)HP:0012368
Hypoplastic mandible condyle
Frequent (30-79%)HP:0000347
Short limbs
Frequent (30-79%)HP:0009826
Uvula bifida
Frequent (30-79%)HP:0000193
Abnormally ossified vertebrae
Occasional (5-29%)HP:0100569
Enlarged joints
Occasional (5-29%)HP:0003037
Fibular bowing
Occasional (5-29%)HP:0010502
Flared metaphysis of thigh bone
Occasional (5-29%)HP:0002834
Flattened vertebral bodies
Occasional (5-29%)HP:0000926
Hydramnios
Occasional (5-29%)HP:0001561
Increased lumbar lordosis
Occasional (5-29%)HP:0002938
Limitation of joint mobility
Occasional (5-29%)HP:0001376
Quick Facts
- SNOMED CT
- 254060000
- UMLS CUI
- C4520892
- Fully Specified Name
- Otospondylomegaepiphyseal 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.