This condition has been associated with mutations in the Fibrillin 1 (FBN1) gene. Mutations in this gene have also been associated with stiff skin syndrome, Marfan syndrome and its variant Marfanoid–progeroid–lipodystrophy syndrome, autosomal dominant Weill-Marchesani syndrome, isolated ectopia lentis, MASS phenotype, and Shprintzen-Goldberg syndrome.
Acromicric dysplasia
Sponastrime dysplasia
Boomerang dysplasia
Thanatophoric dysplasia
Eruptive vellus hair cyst
Trichodysplasia spinulosa
Warty dyskeratoma
Tuber cinereum hamartoma