Overview
Pseudodiastrophic 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.
Flattened vertebral bodies
Very frequent (80-99%)HP:0000926
Foot, talipes equinovarus
Very frequent (80-99%)HP:0001762
Rhizomelic limb shortening
Very frequent (80-99%)HP:0008905
Scoliosis
Very frequent (80-99%)HP:0002650
Zygomatic flattening
Very frequent (80-99%)HP:0000272
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Omphalocoele
Occasional (5-29%)HP:0001539
Camptodactyly
HP:0012385
Flat philtrum
HP:0000319
Frontal protuberance
HP:0002007
Grey sclerae
HP:0000592
Hypoplastic mandible condyle
HP:0000347
Increased lumbar lordosis
HP:0002938
Nostrils anteverted
HP:0000463
Phalangeal dislocation
HP:0006243
Predisposition to infections
HP:0002719
Pterygium colli
HP:0000465
Pyrexia
HP:0001945
Short and broad skull
HP:0000248
Short neck
HP:0000470
Short stature, severe
HP:0003510
Small midface
HP:0011800
Small odontoid peg
HP:0003311
Tongue-like lumbar vertebral deformities
HP:0005680
Ulnohumeral dislocation
HP:0003042
Undergrowth
HP:0001508
Quick Facts
- SNOMED CT
- 254058002
- UMLS CUI
- C0432206
- Fully Specified Name
- Pseudodiastrophic dysplasia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.