Overview
Metaphyseal chondrodysplasia, Schmid 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.
Broad femoral neck
Always present (100%)HP:0006429
Enlarged capital femoral epiphyses
Always present (100%)HP:0003371
Increased bone density in wide portion of long bone
Always present (100%)HP:0004979
Short stature, proportionate
Always present (100%)HP:0003508
Widened metaphyses
Always present (100%)HP:0003016
Abnormal distal femoral metaphysis morphology
Very frequent (80-99%)HP:0030299
Coxa vara
Very frequent (80-99%)HP:0002812
Decreased body height
Very frequent (80-99%)HP:0004322
Irregular metaphyses
Very frequent (80-99%)HP:0003025
Metaphyseal cupping
Very frequent (80-99%)HP:0003021
Proximal femoral metaphyseal abnormality
Very frequent (80-99%)HP:0006431
Short limbs
Very frequent (80-99%)HP:0009826
Thick growth plates
Very frequent (80-99%)HP:0025369
Waddling gait
Very frequent (80-99%)HP:0002515
Abnormal formation of the hip
Frequent (30-79%)HP:0001385
Abnormality of the wide portion of the hand bone
Frequent (30-79%)HP:0005923
Anteriorly splayed ribs
Frequent (30-79%)HP:0000907
Bowed femura
Frequent (30-79%)HP:0002980
Broad innermost finger bones of the hand
Frequent (30-79%)HP:0009852
Cupping of wide portion of long bone of hand
Frequent (30-79%)HP:0006028
Distal femoral metaphyseal irregularity
Frequent (30-79%)HP:0045079
Dwarfism, short-limbed
Frequent (30-79%)HP:0008873
Genu valga
Frequent (30-79%)HP:0002857
Genua vara
Frequent (30-79%)HP:0002970
Increased bone density in ribs
Frequent (30-79%)HP:0006634
Proximal femoral metaphyseal irregularity
Frequent (30-79%)HP:0003411
shortened long tubular bones
Frequent (30-79%)HP:0003026
Shortened long tubular bones of the hand
Frequent (30-79%)HP:0001248
Splayed metaphyses
Frequent (30-79%)HP:0003015
Wide innermost wide portion of shankbone bone
Frequent (30-79%)HP:0005028
Related Conditions
Quick Facts
- SNOMED CT
- 29248006
- UMLS CUI
- C0265289
- Fully Specified Name
- Metaphyseal chondrodysplasia, Schmid type (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.