ADAMTSL2 and Krabbe disease: GLD patients (FBN1, ADAMTSL2, or LTBP3 gene defect) have characteristic facial features, including a happy face with full cheeks, a short nose, hypertelorism, a long flat philtrum, a thin upper lip, tracheal stenosis that may require tracheostomy, hepatomegaly, and progressive cardiac valvular thickening, which leads to reduced life expectancy if left untreated.