Ehlers-Danlos syndrome musculocontractural type

disorder

SNOMED 720860004CUI C1866294

Overview

Ehlers-Danlos syndrome musculocontractural 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.

Distal arthrogryposis

Always present (100%)HP:0005684

Hypoplasia of columella

Always present (100%)HP:0002000

Low-set ears

Always present (100%)HP:0000369

Unbalanced face

Always present (100%)HP:0000324

Bleeding below the skin

Very frequent (80-99%)HP:0001933

Bleeding tendency

Very frequent (80-99%)HP:0001892

Bruising susceptibility

Very frequent (80-99%)HP:0000978

Cervical vertebral anomalies

Very frequent (80-99%)HP:0003319

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased muscle mass

Very frequent (80-99%)HP:0003199

Decreased volume of upper lip

Very frequent (80-99%)HP:0000219

Deep nasolabial crease

Very frequent (80-99%)HP:0005272

Delayed gross motor development

Very frequent (80-99%)HP:0002194

Disproportionate tall stature

Very frequent (80-99%)HP:0001519

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Dysplastic ears

Very frequent (80-99%)HP:0000377

Generalized joint laxity

Very frequent (80-99%)HP:0002761

Grey sclerae

Very frequent (80-99%)HP:0000592

High arched palate

Very frequent (80-99%)HP:0000218

Hyperalgesia

Very frequent (80-99%)HP:0012534

Hypoplastic palmar creases

Very frequent (80-99%)HP:0006184

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Large ears

Very frequent (80-99%)HP:0000400

Muscle weakness

Very frequent (80-99%)HP:0001324

Narrow mouth

Very frequent (80-99%)HP:0000160

Pectus excavatum or carinatum

Very frequent (80-99%)HP:0000766

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Protruding ear

Very frequent (80-99%)HP:0000411

Related Conditions

Distal arthrogryposis syndrome(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Ehlers-Danlos syndrome(parent)

Inherited arthrogryposis(parent)

Quick Facts

SNOMED CT: 720860004
UMLS CUI: C1866294
Fully Specified Name: Ehlers-Danlos syndrome musculocontractural 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.