The clinical features of males with Meester-Loeys syndrome include:
- Widening of the aorta at the level of the chest, which can already take place at a young age (observed earliest at age 1 year)
- Dissection/rupture of the aorta at the level of the chest, which can already take place at a young age (observed earliest at age 15 years)
- In some patients, also the heart valves (mitral and aortic valves) are affected, leading to (mild) insufficiency
The clinical features of mutation-carrying females include:
Cardiovascular features:
- Unaffected
- Aortic root dilatation
- Death due to aortic dissection
Connective tissue features:
- Chest deformities
- Joint hypermobility/contractures
- Striae
- Bifid/split uvula
- Widely spaced eyes
- Cervical spine instability (excessive movement of the cervical spine)
- Stature ranges from short to normal to high normal
- Either long fingers or rather short, broad fingers are observed
Other unusual features:
- Ventricular dilatation on brain imaging: enlarged spaces in the brain
- Hypertrichosis (abnormal amount of hair growth over the body)
- Gingival hypertrophy (overgrowth of gum tissue around the teeth)
- Relative macrocephaly (overly large head)
- Skeletal dysplasia with hip dislocation, platyspondyly (flattened spine bones), phalangeal dysplasia (abnormality of bones in feet and hands), and dysplastic epiphyses of the long bones (abnormality that affects growing ends of bones)