Clinical Signs and Symptoms

* (*) mandatory field

ORPHA:558  Marfan syndrome

The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.

Diagnostic criterion *
Dental crowding HP:0000678
Dural ectasia HP:0100775
Ectopia lentis HP:0001083
High, narrow palate HP:0002705
Increased axial length of the globe HP:0007800
Joint hypermobility HP:0001382
Malar anomaly HP:0012369
Mitral valve prolapse HP:0001634
Myopia HP:0000545
Pectus excavatum HP:0000767
Protrusio acetabuli HP:0003179
Scoliosis HP:0002650
Aneurysm of an abdominal artery HP:0002636
Arterial dissection HP:0005294
Ascending aortic dissection HP:0004933
Dolichocephaly HP:0000268
Downslanted palpebral fissures HP:0000494
Emphysema HP:0002097
Flat cornea HP:0007720
Hypoplasia of the iris HP:0007676
Inguinal hernia HP:0000023
Limited elbow movement HP:0002996
Meningocele HP:0002435
Mitral valve calcification HP:0004382
Pulmonary artery dilatation HP:0004927
Retrognathia HP:0000278
Spondylolisthesis HP:0003302
Arachnodactyly HP:0001166
Dilatation of the ascending aorta HP:0005111
Disproportionate tall stature HP:0001519
Pectus carinatum HP:0000768
Pes planus HP:0001763
Spontaneous pneumothorax HP:0002108
Striae distensae HP:0001065
* Phenotypic abnormalities noted as « diagnostic criterion » are those included in established sets of criteria to establish the diagnosis of a particular disease having been published in a peer-reviewed journal.
Clinical signs and symptoms


The information provided is based on published scientific articles.

The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.

The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.

Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.