Overview
Heart defect and limb shortening 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.
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Atria septal defect
Very frequent (80-99%)HP:0001631
Early bone maturation
Very frequent (80-99%)HP:0005616
Low chest circumference
Very frequent (80-99%)HP:0000774
Mesomelic/rhizomelic limb shortening
Very frequent (80-99%)HP:0005026
Short stature, severe disproportionate
Very frequent (80-99%)HP:0003498
VSD
Very frequent (80-99%)HP:0001629
Abnormal mitral valve morphology
Frequent (30-79%)HP:0001633
Abnormal tricuspid valve morphology
Frequent (30-79%)HP:0001702
Abnormality of lung artery
Frequent (30-79%)HP:0004414
Hunched back
Frequent (30-79%)HP:0002808
Rib anomalies
Frequent (30-79%)HP:0000772
Related Conditions
Congenital heart disease(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Longitudinal deficiency of limb(parent)
Recessive hereditary disorder (autosomal)(parent)
Skeletal dysplasia(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of skeletal bone(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 721009008
- UMLS CUI
- C1859327
- Fully Specified Name
- Heart defect and limb shortening syndrome (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.