Overview
Spondyloepiphyseal dysplasia Maroteaux 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.
Decreased body height
Always present (100%)HP:0004322
Flattened vertebral bodies
Always present (100%)HP:0000926
Generalized osteoporosis with pathologic fractures
Always present (100%)HP:0040160
Genu valga
Always present (100%)HP:0002857
Hypoplastic femoral neck
Always present (100%)HP:0100864
Short hands
Always present (100%)HP:0004279
Spondyloepiphyseal dysplasia
Always present (100%)HP:0002655
Short neck
Frequent (30-79%)HP:0000470
Atlantoaxial instability
Occasional (5-29%)HP:0003467
Broad chest
Occasional (5-29%)HP:0000914
Fallen arches
Occasional (5-29%)HP:0001763
Kyphoscoliosis
Occasional (5-29%)HP:0002751
Pectus carinatum
Occasional (5-29%)HP:0000768
Small joint hypermobilty
Occasional (5-29%)HP:0430046
Cloudy cornea
Excluded (<1%)HP:0007759
Low intelligence
Excluded (<1%)HP:0001249
Mucopolysacchariduria
Excluded (<1%)HP:0008155
Quick Facts
- SNOMED CT
- 719204007
- UMLS CUI
- C3159322
- Fully Specified Name
- Spondyloepiphyseal dysplasia Maroteaux type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.