TABLE 3

Differential Diagnoses: Syndromes With Overlapping Features of Marfan Syndrome

SyndromeManifestationsGenetic Etiology
Mitral valve prolapse syndromeMitral valve prolapse; skeletal manifestations as seen in Marfan syndromeFBN1(in some)
MASS phenotypeMitral valve prolapse; myopia; nonprogressive aortic dilation; nonspecific skin and skeletal featuresFBN1
Familial ectopia lentisEye and skeletal findings of Marfan syndromeFBN1(in some)
Shprintzen-Goldberg syndromeSkeletal and cardiac findings of Marfan syndrome; craniosynostosis; hypertelorism; proptosis; abdominal hernias; joint laxity; developmental delay/intellectual disabilityFBN1(in some)
Weill-Marchesani syndrome (autosomal dominant form)Ectopia lentis; short stature; brachydactyly; characteristic facial featuresFBN1
Loeys-Dietz syndromeSkeletal and cardiovascular features of Marfan syndrome; no ectopia lentis; aggressive dilation of large- and medium-sized arteries; most common and unique features include hypertelorism, bifid uvula/cleft palate, blue sclerae, developmental delays, hydrocephalus, translucent skin, arterial tortuosity, and craniosynostosisTGFBR1
TGFBR2
Congenital contractural arachnodactylyMarfan-like skeletal features; “crumpled” ears; contractures of the knees, ankles, and digits at birth; progressive kyphoscoliosis; arachnodactyly; cardiac valvular anomaliesFBN2
Familial thoracic aortic aneurysmDilation of the aorta and dissections either at the level of the sinuses of Valsalva or the ascending thoracic aorta without the other phenotypic features of Marfan syndromeHeterogeneous
Ehlers-Danlos syndrome, vascular typeThin skin with visible veins; easy bruising; small joint laxity; rupture of hollow organs as well as medium- and large-size arteriesCOL3A1
COL3A2
Ehlers-Danlos syndrome, kyphoscoliotic form (type VI)Marfanoid body habitus; kyphoscoliosis; joint laxity; mitral valve prolapse; hypotonia; blue sclerae; ocular fragility; at risk for rupture of medium-sized arteriesPLOD
ZNF469
HomocystinuriaEctopia lentis; skeletal abnormalities such as those seen in Marfan syndrome; variable cognitive impairment; tendency for thrombotic eventsCBS
Stickler syndromeSevere myopia; retinal detachment; hearing loss; midface hypoplasia; cleft palate; spondyloepiphyseal dysplasiaCOL2A1
COL11A1
COL11A2
COL9A1
Fragile X syndromeOften tall; long face; joint laxity; mild dilation of the aorta; mitral valve prolapse; pectus excavatum; variable intellectual disabilityFMR1