Overview
Chondrodysplasia punctata, MT 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.
Hypoplastic fourth metacarpal
Occasional (5-29%)HP:0010044
Calcific stippling
HP:0002832
coronal cleft of vertebrae
HP:0003417
Micromelia
HP:0002983
Retruded nasal dorsum
HP:0000457
Rudimentary 2nd metacarpal
HP:0010038
Short limbs
HP:0009826
Short skankbone
HP:0005736
Short third metacarpals
HP:0010041
shortened long tubular bones
HP:0003026
Small midface
HP:0011800
Stippling of the epiphyses
HP:0010655
Zygomatic flattening
HP:0000272
Related Conditions
Quick Facts
- SNOMED CT
- 254083002
- UMLS CUI
- C0432224
- Fully Specified Name
- Chondrodysplasia punctata, tibia-metacarpal type (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.