Table 1.

Fibrillin genes and diseases in humans.

Gene	OMIM number of gene	Position	Condition	OMIM number of condition	Phenotype	Inheritance
FBN1	134797	15:48,408,313–48,645,709	Acromicric dysplasia	102370	Short stature, skin thickening, joint limitations	Dominant
			Ectopia lentis, familial	129600	Subluxation and dislocation of the optical lens, without other Marfanoid features	Dominant
			Geleophysic dysplasia 2	614185	Short stature, skin thickening, joint limitations	Dominant
			Marfanoid-progeroid-lipodystrophy syndrome (also known as neonatal progeroid syndrome)	616914	Low or absent subcutaneous fat, with or without other Marfanoid features	Dominant
			MFS	154700	Aortic dilatation and dissection, ectopia lentis, overgrowth of the long bones usually with tall stature, other connective tissue abnormalities	Dominant
			MASS syndrome	604308	Involvement of mitral valve, aorta, skeleton, skin	Dominant
			Stiff-skin syndrome	184900	Hard thick skin	Dominant
			WMS2, dominant	608328	Short stature, brachydactyly, joint stiffness, lens abnormalities	Dominant
FBN2	612570	5:128,257,909–128,538,245	Contractural arachnodactyly, congenital	121050	Arachnodactyly, flexion contractures of multiple joints, kyphoscoliosis, “crumpled” ears, Marfanoid habitus	Dominant
			Macular degeneration, early onset	616118	Atrophic macular disease in fifth decade without skeletal features	Dominant
FBN3	608529	19:8,065,402–8,149,592	Polycystic ovary syndrome 1 (tentative association)	184700	Amenorrhea, obesity, hirsutism	Polygenic

Information compiled from On Line Mendelian Inheritance in Man (OMIM; https://omim.org/), GeneReviews (https://www.ncbi.nlm.nih.gov/) and references therein.