MASS syndrome

MASS syn·drome

[MIM*604308]
a syndrome closely resembling both Marfan syndrome and Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable. At present it has been assigned no separate MIM number, but shares that of the Barlow syndrome [MIM*157700].
[mitral valve prolapse, aortic anomalies, skeletal changes, and skin changes.]
References in periodicals archive ?
Other mutations in LPR5, which presumably cause overactivity leading to high bone mass syndrome.