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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: DisorderDetailed information
Article for general public
Professionals
- Emergency guidelines
- Français (2017, pdf)
- Anesthesia guidelines
- Czech (2013)
- English (2013)
- Español (2013)
- Review article
- English (2014)
- Guidance for genetic testing
- English (2011)
- Clinical genetics review
- English (2018)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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.