Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal bone ossification
Very frequent (80-99%)HP:0011849
Abnormal tibia morphology
Very frequent (80-99%)HP:0002992
Abnormally ossified vertebrae
Very frequent (80-99%)HP:0100569
Decreased response to growth hormone stimulation test
Very frequent (80-99%)HP:0000824
Hypoplastic/aplastic fibulae
Very frequent (80-99%)HP:0006492
Low chest circumference
Very frequent (80-99%)HP:0000774
Micromelia
Very frequent (80-99%)HP:0002983
Poorly ossified vertebrae
Very frequent (80-99%)HP:0100856
Severe short-limb dwarfism
Very frequent (80-99%)HP:0008890
Abnormal humerus morphology
Frequent (30-79%)HP:0031095
Abnormal metacarpal morphology
Frequent (30-79%)HP:0005916
Abnormal morphology of the radius
Frequent (30-79%)HP:0002818
Abnormality of the thighbone
Frequent (30-79%)HP:0002823
Absent/small abdominal wall muscles
Frequent (30-79%)HP:0010318
Absent/small lungs
Frequent (30-79%)HP:0006703
Cryptorchidism
Frequent (30-79%)HP:0000028
Hydramnios
Frequent (30-79%)HP:0001561
Hydrops fetalis
Frequent (30-79%)HP:0001789
Omphalocoele
Frequent (30-79%)HP:0001539
Partial syndactyly
Frequent (30-79%)HP:0006101
Abnormal morphology of ulna
Occasional (5-29%)HP:0040071
absence of radius and ulna
HP:0003974
Absent fibulae
HP:0002990
Broad flat nasal bridge
HP:0000431
Decreased size of nasal septum
HP:0005104
Short stature, severe
HP:0003510
Small iliac bodies
HP:0008824
Small nasal alae
HP:0000430
Quick Facts
- SNOMED CT
- 254054000
- UMLS CUI
- C0432201
- Fully Specified Name
- Boomerang dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.