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Spondyloepimetaphyseal dysplasia matrilin-3 type
disorderSNOMED 719166003CUI C1837481
Overview
Spondyloepimetaphyseal dysplasia matrilin-3 type 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.
Bowed lower limbs
Very frequent (80-99%)HP:0002979
Decreased body height
Very frequent (80-99%)HP:0004322
Short limbs
Very frequent (80-99%)HP:0009826
Dwarfism, short-limbed
Frequent (30-79%)HP:0008873
Increased lumbar lordosis
Frequent (30-79%)HP:0002938
Limited forearm extension
Frequent (30-79%)HP:0001377
Waddling gait
Frequent (30-79%)HP:0002515
Bowed femura
Occasional (5-29%)HP:0002980
Enlarged joints
Occasional (5-29%)HP:0003037
Flat facial shape
Occasional (5-29%)HP:0012368
Pectus excavatum
Occasional (5-29%)HP:0000767
Thoracic hypoplasia
Occasional (5-29%)HP:0005257
Acetabular angle flat
HP:0003180
Bullet vertebral body
HP:0003300
Dysplastic iliac wings
HP:0008794
Flattened vertebral bodies
HP:0000926
Hypoplastic pubis
HP:0003173
Irregular end part of long bone
HP:0010582
Metaphyseal spurs
HP:0005054
Micromelia
HP:0002983
Narrow sciatic notches
HP:0003375
Posterior rib cupping
HP:0000922
shortened long tubular bones
HP:0003026
Small epiphyses
HP:0010585
Spondyloepimetaphyseal dysplasia
HP:0002651
Square iliac bones
HP:0003177
Widened metaphyses
HP:0003016
Quick Facts
- SNOMED CT
- 719166003
- UMLS CUI
- C1837481
- Fully Specified Name
- Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.