Overview
Pelvis shoulder 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.
Multiple skeletal anomalies
Very frequent (80-99%)HP:0005775
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Absent proximal finger flexion creases
Frequent (30-79%)HP:0006077
Absent/small collarbone
Frequent (30-79%)HP:0006710
Absent/small thighbone
Frequent (30-79%)HP:0005613
Absent/underdeveloped ribs
Frequent (30-79%)HP:0006712
Absent/underdeveloped shoulder blade
Frequent (30-79%)HP:0006713
Acetabular dysplasia
Frequent (30-79%)HP:0008807
Ambiguous external genitalia
Frequent (30-79%)HP:0000062
Bell-shaped chest
Frequent (30-79%)HP:0001591
Bilateral microphthalmos
Frequent (30-79%)HP:0007633
Cleft of palate
Frequent (30-79%)HP:0000175
Decreased corneal diameter
Frequent (30-79%)HP:0000482
Decreased size of tongue
Frequent (30-79%)HP:0000171
Dysplastic ears
Frequent (30-79%)HP:0000377
Facial hirsutism
Frequent (30-79%)HP:0009937
Fifth finger distal phalanx clinodactyly
Frequent (30-79%)HP:0005769
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Hole in the back of the eye
Frequent (30-79%)HP:0000480
Hydrancephaly
Frequent (30-79%)HP:0002324
Hydronephrosis
Frequent (30-79%)HP:0000126
Hypoplastic ischii
Frequent (30-79%)HP:0003175
Hypoplastic mandible
Frequent (30-79%)HP:0000347
Hypoplastic pubis
Frequent (30-79%)HP:0003173
Hypoplastic/aplastic fibulae
Frequent (30-79%)HP:0006492
Increased lumbar lordosis
Frequent (30-79%)HP:0002938
Long collarbone
Frequent (30-79%)HP:0000890
Mesomelic/rhizomelic limb shortening
Frequent (30-79%)HP:0005026
Microtia
Frequent (30-79%)HP:0008551
Neonatal short-trunk short stature
Frequent (30-79%)HP:0008857
Related Conditions
Autosomal dominant hereditary disorder(parent)
Congenital anomaly of ilium(parent)
Dysostosis(parent)
Congenital anomaly of scapula(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Congenital dysplasia of lower extremity(parent)
Congenital thoracic dysplasia(parent)
Quick Facts
- SNOMED CT
- 719298001
- UMLS CUI
- C1868508
- Fully Specified Name
- Pelvis shoulder dysplasia (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.