Loeys-Dietz syndrome
ORPHA:60030· ICD-10 Q87.4
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal