Marfan syndrome type 1

disorder

SNOMED 1003407000CUI C4721845

Overview

By MedlinePlus, National Library of Medicine

Courtesy of the National Library of Medicine. 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

Abnormality of lens position

Frequent (30-79%)HP:0001083

Abnormally indented hip sockets

Frequent (30-79%)HP:0003179

Arachnodactyly

Frequent (30-79%)HP:0001166

Camptodactyly

Frequent (30-79%)HP:0012385

Cavus foot

Frequent (30-79%)HP:0001761

Disproportionate tall stature

Frequent (30-79%)HP:0001519

Dolichocephaly

Frequent (30-79%)HP:0000268

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Dropped arches

Frequent (30-79%)HP:0001763

Enlarged aortic root

Frequent (30-79%)HP:0002616

Enophthalmos

Frequent (30-79%)HP:0000490

High arched palate

Frequent (30-79%)HP:0000218

Lens opacities

Frequent (30-79%)HP:0000518

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

Reduced upper to lower segment ratio

Frequent (30-79%)HP:0012773

Scoliosis

Frequent (30-79%)HP:0002650

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

Zygomatic flattening

Frequent (30-79%)HP:0000272

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

Equinus calcaneus

Occasional (5-29%)HP:0008138

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.