Meester-Loeys Syndrome (MRLS)
摘要
Meester-Loeys syndrome (MRLS) is an X-linked condition primarily associated with thoracic aortic aneurysms and dissections, first identified in 2017 among five families. This syndrome is characterized by a range of symptoms affecting multiple organ systems, including cardiovascular, skeletal, craniofacial, cutaneous, and neurological systems. Although the exact incidence is not well-documented, it is considered rare, with a higher prevalence observed in males due to its X-linked inheritance pattern. Clinical features typically manifest at a young age, with early-onset aortic aneurysms and dissections being common. Unique characteristics of MRLS may include ventriculomegaly, relative macrocephaly, hypertrichosis, and gingival hypertrophy, distinguishing it from similar syndromes (Meester et al. 2021, 2024; Online Mendelian Inheritance in Man O 2024).