Overview
Ehlers-Danlos syndrome progeroid type 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.
Aortic stenosis
Very frequent (80-99%)HP:0001650
Arachnodactyly
Very frequent (80-99%)HP:0001166
Big calvaria
Very frequent (80-99%)HP:0000256
Cryptorchidism
Very frequent (80-99%)HP:0000028
Cutis gyrata of palms and soles
Very frequent (80-99%)HP:0007469
Decreased body height
Very frequent (80-99%)HP:0004322
Fallen arches
Very frequent (80-99%)HP:0001763
Flat facial shape
Very frequent (80-99%)HP:0012368
Flexion contractures
Very frequent (80-99%)HP:0001371
Inability to make and keep healthy fat tissue
Very frequent (80-99%)HP:0009125
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased length of toes
Very frequent (80-99%)HP:0010511
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Loose skin
Very frequent (80-99%)HP:0000973
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Progeroid facial appearance
Very frequent (80-99%)HP:0005328
Prominent globes
Very frequent (80-99%)HP:0000520
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Pulmonary stenosis
Very frequent (80-99%)HP:0001642
Red and swollen gums
Very frequent (80-99%)HP:0000230
Retarded growth
Very frequent (80-99%)HP:0001510
Skin hyperelasticity
Very frequent (80-99%)HP:0000974
Spermatic cord torsion
Very frequent (80-99%)HP:0100813
Thin skin
Very frequent (80-99%)HP:0000963
Abnormal skeletal development
Frequent (30-79%)HP:0002652
Abnormal skin colour
Frequent (30-79%)HP:0001000
Atypical scarring
Frequent (30-79%)HP:0000987
Craniosyostosis
Frequent (30-79%)HP:0001363
Fused forearm bones
Frequent (30-79%)HP:0002974
Quick Facts
- SNOMED CT
- 720861000
- UMLS CUI
- C4552003
- Fully Specified Name
- Ehlers-Danlos syndrome progeroid type (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.