porucha spojivového tkaniva podobná Marfanovmu syndrómu Marfanov syndróm, typ 1 Marfanov syndróm typu I Marfanov syndróm, typ 2 Marfanov syndróm typu II
English X references
Marfan Like Connective Tissue Disorder Marfan Syndrome Type 1 Marfan Syndrome Type 2 Marfan Syndrome, Type II
Scope note in English
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.
