Overview
Rivera Perez Salas 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 fibula morphology
Very frequent (80-99%)HP:0002991
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormality of pelvic girdle bone morphology
Very frequent (80-99%)HP:0002644
Bell-shaped chest
Very frequent (80-99%)HP:0001591
Dwarfism, short-limbed
Very frequent (80-99%)HP:0008873
Elbow dislocation
Very frequent (80-99%)HP:0003042
Flat facial shape
Very frequent (80-99%)HP:0012368
Genu valga
Very frequent (80-99%)HP:0002857
Joint instability
Very frequent (80-99%)HP:0001382
Low chest circumference
Very frequent (80-99%)HP:0000774
Low posterior hair line
Very frequent (80-99%)HP:0002162
Prominent swayback
Very frequent (80-99%)HP:0003307
Round facies
Very frequent (80-99%)HP:0000311
Short limbs
Very frequent (80-99%)HP:0009826
Short ribs
Very frequent (80-99%)HP:0000773
Thickening of shaft or central part of long bones
Very frequent (80-99%)HP:0005019
Gait disturbance
Occasional (5-29%)HP:0001288
Short neck
Occasional (5-29%)HP:0000470
Related Conditions
Recessive hereditary disorder (autosomal)(parent)
Short rib dysplasia(parent)
Small stature(parent)
Hereditary disorder of musculoskeletal system(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Developmental hereditary disorder(parent)
Congenital hypoplasia of bone of pelvis(parent)
Quick Facts
- SNOMED CT
- 783003009
- UMLS CUI
- C1848863
- Fully Specified Name
- Thoracomelic dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 18
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.