Marfan syndrome type 1

disorder

SNOMED 1003407000CUI C4721845

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.

Dural ectasia

Very frequent (80-99%)HP:0100775

Abnormally indented hip sockets

Frequent (30-79%)HP:0003179

Arachnodactyly

Frequent (30-79%)HP:0001166

Camptodactyly

Frequent (30-79%)HP:0012385

Cataract

Frequent (30-79%)HP:0000518

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Disproportionate tall stature

Frequent (30-79%)HP:0001519

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Enophthalmos

Frequent (30-79%)HP:0000490

Fallen arches

Frequent (30-79%)HP:0001763

High arched palate

Frequent (30-79%)HP:0000218

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Increased aortic root diameter

Frequent (30-79%)HP:0002616

Lens dislocation

Frequent (30-79%)HP:0001083

Mitral regurgitation, mild

Frequent (30-79%)HP:0001653

Mitral valve prolapse

Frequent (30-79%)HP:0001634

Near sighted

Frequent (30-79%)HP:0000545

Pectus carinatum

Frequent (30-79%)HP:0000768

Pectus excavatum

Frequent (30-79%)HP:0000767

Pes cavus

Frequent (30-79%)HP:0001761

Reduced upper to lower segment ratio

Frequent (30-79%)HP:0012773

Slender feet

Frequent (30-79%)HP:0001786

Thoracic lordosis

Frequent (30-79%)HP:0430043

Tricuspid regurgitation

Frequent (30-79%)HP:0005180

Tricuspid valve prolapse

Frequent (30-79%)HP:0001704

Turridolichocephaly

Frequent (30-79%)HP:0000268

Abnormal curving of the cornea or lens of the eye

Occasional (5-29%)HP:0000483

Aortic valve regurgitation

Occasional (5-29%)HP:0001659

Collapsed lung

Occasional (5-29%)HP:0002107

Dental crowding

Occasional (5-29%)HP:0000678

Related Conditions

Marfan's syndrome(parent)

Quick Facts

SNOMED CT: 1003407000
UMLS CUI: C4721845
Fully Specified Name: Marfan syndrome type 1 (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.