Ehlers-Danlos syndrome kyphoscoliotic and deafness type

disorder

SNOMED 720859009CUI C4303788

Overview

Ehlers-Danlos syndrome kyphoscoliotic and deafness 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.

Delay in head control

Very frequent (80-99%)HP:0002421

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Fallen arches

Very frequent (80-99%)HP:0001763

Hyperkeratosis follicularis

Very frequent (80-99%)HP:0007502

Joint ligamentous laxity

Very frequent (80-99%)HP:0001382

Kyphoscoliosis

Very frequent (80-99%)HP:0002751

Muscle wasting

Very frequent (80-99%)HP:0003202

Myopathy

Very frequent (80-99%)HP:0003198

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Severe muscular hypotonia

Very frequent (80-99%)HP:0006829

Skin hyperelasticity

Very frequent (80-99%)HP:0000974

Bruising susceptibility

Frequent (30-79%)HP:0000978

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Hernia

Frequent (30-79%)HP:0100790

Muscle weakness

Frequent (30-79%)HP:0001324

Near sighted

Frequent (30-79%)HP:0000545

Osteopenia

Frequent (30-79%)HP:0000938

Thin, atrophic scars

Frequent (30-79%)HP:0001075

Tired easily

Frequent (30-79%)HP:0003388

Abnormal eye morphology

Occasional (5-29%)HP:0012372

Arterial rupture

Occasional (5-29%)HP:0025019

Decreased corneal diameter

Very rare (1-4%)HP:0000482

Disproportionate tall stature

Very rare (1-4%)HP:0001519

Related Conditions

Sensorineural hearing loss(parent)

Hearing loss associated with syndrome(parent)

Ehlers-Danlos syndrome kyphoscoliotic type(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 720859009
UMLS CUI: C4303788
Fully Specified Name: Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.