Overview
Multiple epiphyseal dysplasia type 4 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 skeletal development
Very frequent (80-99%)HP:0002652
Arthritic pain
Very frequent (80-99%)HP:0002829
Multiple epiphyseal dysplasia
Very frequent (80-99%)HP:0002654
Acetabular dysplasia
Frequent (30-79%)HP:0008807
Bilateral clubfeet
Frequent (30-79%)HP:0001776
Brachydactyly
Frequent (30-79%)HP:0001156
Coxa vara
Frequent (30-79%)HP:0002812
Double-layered patella
Frequent (30-79%)HP:0031174
Early bone maturation
Frequent (30-79%)HP:0005616
Fetal foot inversion
Frequent (30-79%)HP:0001762
Fixed flexion at the elbow joint
Frequent (30-79%)HP:0002987
Flat end part of bone
Frequent (30-79%)HP:0003071
Flattened femoral epiphysis
Frequent (30-79%)HP:0030289
Flexion contractures
Frequent (30-79%)HP:0001371
Genu valga
Frequent (30-79%)HP:0002857
Hip arthralgia
Frequent (30-79%)HP:0003365
Hypoplasia involving bones of the upper limbs
Frequent (30-79%)HP:0009824
Hypoplastic mandible
Frequent (30-79%)HP:0000347
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Premature osteoarthritis
Frequent (30-79%)HP:0003088
Short stature, moderate
Frequent (30-79%)HP:0008848
Short stature, severe disproportionate
Frequent (30-79%)HP:0003498
Stiff joint
Frequent (30-79%)HP:0001387
Waddling gait
Frequent (30-79%)HP:0002515
Abnormal earlobe morphology
Occasional (5-29%)HP:0000363
Abnormal shape of hand
Occasional (5-29%)HP:0005922
Abnormality of forearm bone
Occasional (5-29%)HP:0040072
Abnormality of the ulnar epiphyses
Occasional (5-29%)HP:0004037
Acromicria
Occasional (5-29%)HP:0031878
Acroparesthesia
Occasional (5-29%)HP:0031006
Quick Facts
- SNOMED CT
- 715672007
- UMLS CUI
- C1847593
- Fully Specified Name
- Multiple epiphyseal dysplasia type 4 (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.