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Loeys-Dietz syndrome

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Disease definition

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

ORPHA:60030

Classification level: Disorder

Synonym(s):
  • Aortic aneurysm syndrome due to TGF-beta receptors anomalies

Prevalence: Unknown

Inheritance: Autosomal dominant, Autosomal recessive

Age of onset: Antenatal, Infancy, Neonatal

ICD-10: Q87.4

ICD-11: BD50.Z

OMIM: 613795 615582 619656 614816 609192 610168

UMLS: C2697932

MeSH: D055947

GARD: 10788

MedDRA: 10081284

A summary on this disease is available in Français, Español, Deutsch, Italiano, Nederlands Ελληνικά
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
Français (2019.pdf) - Fondation Groupama
Svenska (2024) - 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
English (2024) - Eur Heart J Logo ERN
English (2023) - Eur J Med Genet Logo ERN
Disease review articles
Review article
English (2014) - Genet Med
Clinical genetics review
English (2024) - GeneReviews
Genetic testing
Guidance for genetic testing
English (2011) - 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.