Type 1 fibrillinopathies
| Syndrome | Clinical features | Reference |
|---|---|---|
| Although classic MFS is by far the most common disorder associated with FBN1 mutations, several other disorders with overlapping clinical findings have been described due to mutations in FBN1. | ||
| MFS | See text | See text |
| Neonatal MFS | Severe end of clinical spectrum | Kainulainen et al,117 Booms et al129 |
| Atypically severe MFS | Severe and early onset cardiovascular complications | Putnam et al,130 Tiecke et al,131 |
| Ectopia lentis | Mainly ocular findings | Lönnqvist et al,132 Ades et al,133 |
| Kyphoscoliosis | Progressive kyphoscoliosis of variable severity | Ades et al134 |
| Familial arachnodactyly | Dolichostenomelia and arachnodactyly | Hayward et al135 |
| Familial thoracic ascending aortic | See text | |
| aneurysms and dissections | ||
| MASS phenotype | Mitral valve prolapse, aortic dilatation without dissection, | Dietz et al136 |
| skeletal and skin abnormalities | ||
| Shprintzen-Goldberg syndrome | Craniosynostosis, a marfanoid habitus, and skeletal, | Sood et al,137 Kosaki et al138 Robinson et al139 |
| neurological, cardiovascular, and connective tissue anomalies | ||
| Isolated skeletal features | Tall stature, scoliosis, pectus excavatum, arachnodactyly | Milewicz et al50 |
| New variant of MFS | Skeletal features of MFS, joint contractures, ectopia lentis, | Ståhl-Hallengren et al,140 Black et al,141 |
| no cardiovascular manifestations | ||
| Weill-Marchesani syndrome | Short stature, brachydactyly, joint stiffness, and | Faivre et al142 |
| (autosomal dominant) | characteristic eye abnormalities | |