Overview
Pelviscapular dysplasia 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 joint spaces of the elbow
Always present (100%)HP:0003943
Big calvaria
Always present (100%)HP:0000256
Brachydactyly
Always present (100%)HP:0001156
Congenital hip dislocations
Always present (100%)HP:0001374
Dislocated femoral heads
Always present (100%)HP:0002827
Disproportionate short stature
Always present (100%)HP:0003498
Fixed flexion at the elbow joint
Always present (100%)HP:0002987
Humeral radial synostosis
Always present (100%)HP:0003041
Hypoplastic iliac wing
Always present (100%)HP:0002866
Low anterior hairline
Always present (100%)HP:0000294
Mesomelic lower limb shortening
Always present (100%)HP:0004987
Narrow palpebral fissure
Always present (100%)HP:0045025
Posteriorly angulated ears
Always present (100%)HP:0000358
Scapular hypoplasia
Always present (100%)HP:0000882
Short femur
Always present (100%)HP:0003097
Short neck
Always present (100%)HP:0000470
Small wings of the pelvic girdle
Always present (100%)HP:0000946
Abnormal skull base morphology
Very frequent (80-99%)HP:0002693
Decreased body height
Very frequent (80-99%)HP:0004322
Low-set ears
Very frequent (80-99%)HP:0000369
Blepharophimosis
Frequent (30-79%)HP:0000581
Deep set eye
Frequent (30-79%)HP:0000490
Dysplastic ears
Frequent (30-79%)HP:0000377
Frontal protuberance
Frequent (30-79%)HP:0002007
Hearing impairment
Frequent (30-79%)HP:0000365
Increased distance between eyes
Frequent (30-79%)HP:0000316
Low posterior hair line
Frequent (30-79%)HP:0002162
Narrow external auditory meatus
Frequent (30-79%)HP:0000402
Redundant neck skin
Frequent (30-79%)HP:0005989
Squint
Frequent (30-79%)HP:0000486
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Dysostosis(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Congenital dysplasia of limb(parent)
Abnormality of limb bone morphology(parent)
Quick Facts
- SNOMED CT
- 719299009
- UMLS CUI
- C1850040
- Fully Specified Name
- Pelviscapular dysplasia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.