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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Neu-Laxova syndrome
MONDO:0000179
autosomal dominant polycystic liver disease
MONDO:0000447
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
MONDO:0000507
syndromic intellectual disability
MONDO:0000508
abdominal obesity-metabolic syndrome
MONDO:0000816
fibrogenesis imperfecta ossium
MONDO:0000849