Conditions / Syndrome
Meester-Loeys syndrome
info · Syndrome
A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of
A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28.
Signs and symptoms
- Relative macrocephaly
- Ventriculomegaly
- Malar flattening
- Aortic root aneurysm
- Downslanted palpebral fissures
- Joint hypermobility
- Hypertelorism
- Frontal bossing
- Hypertrichosis
- Gingival overgrowth
Also known as: MRLS