Meester-Loeys syndrome is a multisystem disorder characterized by the following main cardiovascular features:
- Early-onset aortic aneurysm (as early as age 1 year) and dissection (earliest at the age of 15 years) in male probands (aortic root or more distal ascending aorta)
- Mild mitral and aortic valve insufficiency
- Brain aneurysms have been observed in one family
The cardiovascular phenotype in mutation-carrying females ranged from unaffected upon repeated echocardiographic evaluation over aortic root dilatation to death due to aortic dissection.
Other connective tissue features include:
- Pectus deformities
- Joint hypermobility/contractures
- Striae
- Bifid uvula
- Hypertelorism
- Cervical spine instability
- The stature ranges from short to normal to high normal
- Either long fingers or rather short, broad fingers
- Ventricular dilatation on brain imaging
- Hypertrichosis
- Gingival hypertrophy
- Relative macrocephaly
- There is also evidence of skeletal dysplasia with hip dislocation, platyspondyly, phalangeal dysplasia, and dysplastic epiphyses of the long bones