Orphanet: Loeys Dietz syndrome

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Loeys-Dietz syndrome

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 or Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q87.4
ICD-11: BD50.Z
OMIM: 609192 610168
UMLS: C2697932
MeSH: D055947
GARD: 10788
MedDRA: 10081284

A summary on this disease is available in Deutsch (2016) Español (2016) Italiano (2016) Nederlands (2016) Français (2006)

Detailed information

General public

Article for general public
Suomi (2014, pdf) - FPD RD Unit
Français (2019, pdf) - Fondation Groupama
Svenska (2019) - Socialstyrelsen

Guidelines

Emergency guidelines
Français (2017, pdf) - Orphanet Urgences

Clinical practice guidelines
English (2023) - Eur J Med Genet

Anesthesia guidelines
Czech (2013) - Orphananesthesia
English (2013) - Orphananesthesia
Español (2013) - Orphananesthesia

Disease review articles

Review article
English (2014) - Genet Med

Clinical genetics review
English (2018) - GeneReviews

Genetic Testing

Guidance for genetic testing
English (2011) - Eur J Hum Genet

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

The documents contained in this web site 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.