Overview
Multiple epiphyseal dysplasia type 1 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.
Abnormal development of end part of bone
Always present (100%)HP:0002656
Fallen arches
Always present (100%)HP:0001763
Irregular end part of long bone
Always present (100%)HP:0010582
Limited hip movement
Always present (100%)HP:0008800
short stature, mild
Always present (100%)HP:0003502
Developmental dysplasia of the hip
Frequent (30-79%)HP:0001385
Gait disturbance
Frequent (30-79%)HP:0001288
Hip arthralgia
Frequent (30-79%)HP:0003365
Pain under knee cap
Frequent (30-79%)HP:0030839
Postexertional malaise
Frequent (30-79%)HP:0030973
shortened long tubular bones
Frequent (30-79%)HP:0003026
Abnormal acetabulum morphology
Occasional (5-29%)HP:0003170
Ankle pain
Occasional (5-29%)HP:0030840
Epiphyseal ossification delay
Occasional (5-29%)HP:0002663
Finger joint hypermobility
Occasional (5-29%)HP:0006094
Knee joint hypermobility
Occasional (5-29%)HP:0045086
Limitation of joint mobility
Occasional (5-29%)HP:0001376
Osteoarthritis
Occasional (5-29%)HP:0002758
Short stature, severe disproportionate
Occasional (5-29%)HP:0003498
Stiff joint
Occasional (5-29%)HP:0001387
Coxa vara
Very rare (1-4%)HP:0002812
Genu valga
Very rare (1-4%)HP:0002857
Genua vara
Very rare (1-4%)HP:0002970
Broad femoral neck
HP:0006429
Bullet vertebral body
HP:0003300
Dwarfism, short-limbed
HP:0008873
Generalized joint laxity
HP:0002761
Hip osteoarthritis
HP:0008843
Hypoplastic femoral neck
HP:0100864
Osteonecrosis of the femoral head
HP:0005743
Quick Facts
- SNOMED CT
- 715673002
- UMLS CUI
- C1838280
- Fully Specified Name
- Multiple epiphyseal dysplasia type 1 (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.