Table 4

Type 1 fibrillinopathies

No Syndrome Clinical features Mutations Refs
1Marfan syndromeSee text, section 1See text, section 10117
2Neonatal MFS (nMFS)Severe manifestations (see text). Death usually in the first year of life  owing to congestive heart failure.“Hotspot” in ex 24-27
 and 31-32
Reviewed in 127
3Shprintzen-Goldberg syndromeCraniosynostosis and marfanoid habitusC1223Y (ex 29)133
4Familial arachnodactylyArachnodactyly, dolichostenomelia, no cardiovascular manifestationsR1170H (ex 28)137
5Ectopia lentisBilateral ectopia lentis, in some cases scoliosis, no cardiovascular  manifestationsE2447K (ex 59)131
6Ascending aortic aneurysm and  dissection without classical MFSAscending aortic aneurysm and dissection, no ectopia lentis, no specific  skeletal findings(1) G1127S (ex 27)139 141
(2) D1155N (ex 27)
(3) P1837S (ex 44)
7MASS phenotypeMitral valve prolapse, aortic root dilatation without dissection, skeletal  and skin abnormalities5317insTTCA (ex 41)151
8New variant of the MFSSkeletal features of MFS with joint contractures and knee joint effusions. Ectopia lentis. no cardiovascular manifestationsR122C (ex 4) (2x)196 197
9Isolated skeletal featuresTall stature, scoliosis, pectus excavatum, arachnodactylyR2726W (ex 64)33