Синдром Лойса-Діца
ORPHA:60030· ICD-10 Q87.4· Loeys-Dietz syndrome
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Antenatal, Infancy, Neonatal