Ehlers-Danlos syndrome spondylocheirodysplastic type

disorder

SNOMED 773276004CUI C2676510

Overview

Ehlers-Danlos syndrome spondylocheirodysplastic 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.

Concave bridge of nose

Always present (100%)HP:0005280

Increased distance between eyes

Always present (100%)HP:0000316

Pterygium colli

Always present (100%)HP:0000465

Bruising susceptibility

Very frequent (80-99%)HP:0000978

Grey sclerae

Very frequent (80-99%)HP:0000592

Prominent globes

Very frequent (80-99%)HP:0000520

Short stature, moderate

Very frequent (80-99%)HP:0008848

Skeletal dysplasia

Very frequent (80-99%)HP:0002652

Skin hyperelasticity

Very frequent (80-99%)HP:0000974

Thin skin

Very frequent (80-99%)HP:0000963

Undergrowth

Very frequent (80-99%)HP:0001508

Abnormal metaphysis morphology

Frequent (30-79%)HP:0000944

Absent palm lines

Frequent (30-79%)HP:0010489

Cigarette-paper scars

Frequent (30-79%)HP:0001073

Delayed motor milestones

Frequent (30-79%)HP:0001270

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Flat capital femoral epiphyses

Frequent (30-79%)HP:0003370

Flat end part of bone

Frequent (30-79%)HP:0003071

Flattened vertebral bodies

Frequent (30-79%)HP:0000926

Osteopenia

Frequent (30-79%)HP:0000938

Radial head dislocation

Frequent (30-79%)HP:0003083

Splayed metaphyses

Frequent (30-79%)HP:0003015

Tapering fingers

Frequent (30-79%)HP:0001182

Thenar muscle atrophy

Frequent (30-79%)HP:0003393

Uvula bifida

Frequent (30-79%)HP:0000193

Flexion contractures

Occasional (5-29%)HP:0001371

Kyphoscoliosis

Occasional (5-29%)HP:0002751

Angle class 2 malocclusion

HP:0000689

Broad femoral neck

HP:0006429

Contractures of the hands

HP:0009473

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Spondylodysplastic Ehlers-Danlos syndrome(parent)

Quick Facts

SNOMED CT: 773276004
UMLS CUI: C2676510
Fully Specified Name: Ehlers-Danlos syndrome spondylocheirodysplastic 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.