Overview
Mesomelic dysplasia Kantaputra 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.
Abnormal fibula morphology
Very frequent (80-99%)HP:0002991
Abnormal humerus morphology
Very frequent (80-99%)HP:0031095
Abnormality of the ankle
Very frequent (80-99%)HP:0003028
Decreased body height
Very frequent (80-99%)HP:0004322
Dumbbell-shaped humerus
Very frequent (80-99%)HP:0005009
Mesomelia
Very frequent (80-99%)HP:0003027
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Tarsal bone synostosis
Very frequent (80-99%)HP:0008368
Fusion of wrist bones
Frequent (30-79%)HP:0005048
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Ulnar Drift
Frequent (30-79%)HP:0009465
Abnormal spinal segmentation
Occasional (5-29%)HP:0003422
Outward turned elbows
Occasional (5-29%)HP:0002967
Rib anomalies
Occasional (5-29%)HP:0000772
Talipes
Occasional (5-29%)HP:0001883
Fused wrist bones
HP:0009702
Radial bowing
HP:0002986
Related Conditions
Autosomal dominant hereditary disorder(parent)
Mesomelic dysplasia(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Congenital deformity of bone of forearm(parent)
Small stature(parent)
Congenital anomalies of elbow and upper arm(parent)
Deformity of radius(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Congenital abnormal shape of humerus(parent)
Congenital abnormal shape of radius(parent)
Congenital bowing of long bone(parent)
Quick Facts
- SNOMED CT
- 719397009
- UMLS CUI
- C1835009
- Fully Specified Name
- Mesomelic dysplasia Kantaputra 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.