Ehlers-Danlos syndrome, type 8

disorder

SNOMED 50869007CUI C0268347

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bleeding gums

Very frequent (80-99%)HP:0000225

Bruising susceptibility

Very frequent (80-99%)HP:0000978

Decreased body height

Very frequent (80-99%)HP:0004322

Gingival fragility

Very frequent (80-99%)HP:0034518

Gum recession

Very frequent (80-99%)HP:0030816

Hyperpigmented macules

Very frequent (80-99%)HP:0001034

Pretibial hyperpigmentation

Very frequent (80-99%)HP:0034517

Pyorrhea

Very frequent (80-99%)HP:0000704

Thin, atrophic scars

Very frequent (80-99%)HP:0001075

Agenesis of permanent teeth

Frequent (30-79%)HP:0006349

Arthralgias

Frequent (30-79%)HP:0002829

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Flattening of alveolar processes of jaw

Frequent (30-79%)HP:0006308

Fragile skin

Frequent (30-79%)HP:0001030

Gingival overgrowth

Frequent (30-79%)HP:0000212

Ligamentous laxity

Frequent (30-79%)HP:0001382

Prominent veins

Frequent (30-79%)HP:0001015

Skin hyperelasticity

Frequent (30-79%)HP:0000974

Tooth hypoplasia

Frequent (30-79%)HP:0000691

Accelerated linear growth

Occasional (5-29%)HP:0000098

Arachnodactyly

Occasional (5-29%)HP:0001166

Decreased projection of lower jaw

Occasional (5-29%)HP:0000347

Generalized joint laxity

Occasional (5-29%)HP:0002761

Joint dislocation

Occasional (5-29%)HP:0001373

Premature exfoliation of primary teeth

Occasional (5-29%)HP:0006323

Stomach hernia

Occasional (5-29%)HP:0002036

Susceptibility to infection

Occasional (5-29%)HP:0002719

Umbilical hernia

Occasional (5-29%)HP:0001537

Alveolar bone loss around teeth

HP:0410027

Autoimmune disorder

HP:0002960

Related Conditions

Ehlers-Danlos syndrome(parent)

Periodontitis co-occurrent with genetic disorder(parent)

Periodontitis as manifestation of systemic disease(parent)

Autosomal dominant hereditary disorder(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Quick Facts

SNOMED CT: 50869007
UMLS CUI: C0268347
Fully Specified Name: Periodontal Ehlers-Danlos syndrome (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.