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Mesomelic dysplasia with cleft palate and camptodactyly syndrome
disorderSNOMED 715471007CUI C2930871
Overview
Mesomelic dysplasia with cleft palate and camptodactyly syndrome 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.
Abnormality of the hips
Very frequent (80-99%)HP:0003272
Bowed long bones
Very frequent (80-99%)HP:0006487
Cleft of palate
Very frequent (80-99%)HP:0000175
Elbow dislocation
Very frequent (80-99%)HP:0003042
Mesomelia
Very frequent (80-99%)HP:0003027
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Retrognathia
Very frequent (80-99%)HP:0000278
Skin dimples
Very frequent (80-99%)HP:0010781
Abnormal metacarpal morphology
Frequent (30-79%)HP:0005916
Abnormal metaphysis morphology
Frequent (30-79%)HP:0000944
Abnormal spinal segmentation
Frequent (30-79%)HP:0003422
Anomaly of the epiphyses
Frequent (30-79%)HP:0005930
Decreased volume of lip vermillion
Frequent (30-79%)HP:0000233
Lung segmentation defects
Frequent (30-79%)HP:0002101
Overfolded helix
Frequent (30-79%)HP:0000396
Poorly developed lungs
Frequent (30-79%)HP:0002089
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Quick Facts
- SNOMED CT
- 715471007
- UMLS CUI
- C2930871
- Fully Specified Name
- Mesomelic dysplasia with cleft palate and camptodactyly syndrome (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.