ECRD 2026

Knowledge on rare diseases and orphan drugs

COVID-19 & Rare diseases logo Rare Diseases Resources for Refugees/Displaced Persons
Homepage > Rare diseases > Search

Search for a rare disease

*
(*) mandatory field

Marfan syndrome type 1

Suggest an update
Your message has been sent Your message has not been sent. Please contact an administrator.

ORPHA:284963

Classification level: Subtype of disorder

Synonym(s):
  • MFS1

Prevalence: -

Inheritance: Autosomal dominant

Age of onset: All ages

ICD-10: Q87.4

ICD-11: LD28.01

OMIM: 154700

UMLS: C4721845

Summary

This disease is described under Marfan syndrome

Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

General public
Article for general public
Suomi (2014.pdf) - FPD RD Unit
Svenska (2017) - Socialstyrelsen
Guidelines
Emergency guidelines
Français (2017.pdf) - Orphanet Urgences
Polski (2007.pdf) - Orphanet Urgences
Deutsch (2014.pdf) - Orphanet Urgences
English (2007.pdf) - Orphanet Urgences
Español (2007.pdf) - Orphanet Urgences
Italiano (2007.pdf) - Orphanet Urgences
Português (2007.pdf) - Orphanet Urgences
Anesthesia guidelines
English (2013) - Orphananesthesia
Español (2013) - Orphananesthesia
Čeština (2013) - Orphananesthesia
Clinical practice guidelines
Français (2018) - PNDS Logo FSMR
English (2024) - Eur Heart J Logo ERN
English (2024) - Eur Heart J Logo ERN
English (2023) - Eur J Med Genet Logo ERN
Disease review articles
Review article
English (2019) - Genet Med
Clinical genetics review
English (2022) - GeneReviews
Diagnostic criteria
English (2010) - J Med Genet
Disability
Disability factsheet
Français (2014.pdf) - Orphanet
Español (2016.pdf) - Orphanet
Genetic testing
Guidance for genetic testing
English (2010) - Eur J Hum Genet
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.