Overview
Spondylometaphyseal dysplasia A4 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.
Coxa vara
Very frequent (80-99%)HP:0002812
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Micromelia
Very frequent (80-99%)HP:0002983
Short stature, severe
Very frequent (80-99%)HP:0003510
Spondylometaphyseal dysplasia
Very frequent (80-99%)HP:0002657
Short palm
Frequent (30-79%)HP:0004279
Flared, irregular rib ends
Occasional (5-29%)HP:0006603
Limitation of joint mobility
Occasional (5-29%)HP:0001376
Acetabular angle flat
HP:0003180
Brachydactyly
HP:0001156
Broad ischia
HP:0100865
Bullet vertebral body
HP:0003300
Costochondral joint sclerosis
HP:0006623
Coxa valga deformity
HP:0002673
Dolichocephaly
HP:0000268
Dwarfism, short-limbed
HP:0008873
Hardening of wide portion of long bone of upper arm
HP:0003918
Increased bone density in wide portion of long bone
HP:0004979
Irregular capital femoral epiphysis
HP:0005041
Irregular metaphyses
HP:0003025
Irregular patellar margins
HP:0006369
Narrow sciatic notches
HP:0003375
Osteoporotic metatarsal
HP:0004699
Osteoporotic tarsals
HP:0008076
Pectus carinatum
HP:0000768
Prominent costochondral junction
HP:0000920
Small capital femoral epiphyses
HP:0003090
Widened metaphyses
HP:0003016
Quick Facts
- SNOMED CT
- 782912001
- UMLS CUI
- C1836862
- Fully Specified Name
- Spondylometaphyseal dysplasia A4 type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.