Overview
Ehlers-Danlos syndrome kyphoscoliotic 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.
Joint instability
Very frequent (80-99%)HP:0001382
Kyphoscoliosis
Very frequent (80-99%)HP:0002751
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Atypical scarring
Frequent (30-79%)HP:0000987
Bruising susceptibility
Frequent (30-79%)HP:0000978
Congenital kyphoscoliosis
Frequent (30-79%)HP:0008453
Delayed gross motor development
Frequent (30-79%)HP:0002194
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Fragile skin
Frequent (30-79%)HP:0001030
Hypotonia, in neonatal onset
Frequent (30-79%)HP:0001319
Low-set ears
Frequent (30-79%)HP:0000369
Palpebronasal fold
Frequent (30-79%)HP:0000286
Skin hyperelasticity
Frequent (30-79%)HP:0000974
Soft, doughy skin
Frequent (30-79%)HP:0001027
Unibrow
Frequent (30-79%)HP:0000664
Abnormal hands
Occasional (5-29%)HP:0001155
Abnormality of the feet
Occasional (5-29%)HP:0001760
Antenatal intracerebral haemorrhage
Occasional (5-29%)HP:0007023
Arachnodactyly
Occasional (5-29%)HP:0001166
Arterial rupture
Occasional (5-29%)HP:0025019
Congenital hip dislocations
Occasional (5-29%)HP:0001374
Cornea of eye less than 10mm in diameter
Occasional (5-29%)HP:0000482
Decreased fetal movement
Occasional (5-29%)HP:0001558
Dislocated femoral heads
Occasional (5-29%)HP:0002827
Disproportionate tall stature
Occasional (5-29%)HP:0001519
Fallen arches
Occasional (5-29%)HP:0001763
Feeding difficulties
Occasional (5-29%)HP:0011968
Fetal foot inversion
Occasional (5-29%)HP:0001762
Gait disturbance
Occasional (5-29%)HP:0001288
Grey sclerae
Occasional (5-29%)HP:0000592
Quick Facts
- SNOMED CT
- 718211004
- UMLS CUI
- C4551497
- Fully Specified Name
- Ehlers-Danlos syndrome kyphoscoliotic 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.