| Main clinical features
|
aortic aneurysm in association with variable other features, including hypertelorism, bifid uvula, pectus deformity, bicuspid aortic valve, arterial tortuosity, arachnodactyly, scoliosis, clubfeet, and thin skin with easy bruising and striae
mild craniofacial anomalies including retrognathia, high-arched palate, hypertelorism, bifid uvula and ocular abnormalities (corneal thickness, cornea guttata) may be present (PMID: 32309079))
may be associated with a neurodevelopmental phenotype with incomplete penetrance and variable expression (PMID: 35426477)) |