Number of the records: 1
Marfanov syndróm
Record number d008382 Date 06.06.2025 Type M Topical term Marfanov syndróm Other term English (Pseudonym) Marfan Like Connective Tissue Disorder
English (Pseudonym) Marfan Syndrome Type 1
English (Pseudonym) Marfan Syndrome Type 2
English (Pseudonym) Marfan Syndrome, Type II
Slovak (Pseudonym) porucha spojivového tkaniva podobná Marfanovmu syndrómu
Slovak (Pseudonym) Marfanov syndróm, typ 1
Slovak (Pseudonym) Marfanov syndróm typu I
Slovak (Pseudonym) Marfanov syndróm, typ 2
Slovak (Pseudonym) Marfanov syndróm typu II
See also (Skutočné meno) Loeysov-Dietzov syndróm
(Skutočné meno) Weillov-Marchesaniho syndróm
(Later heading) Loeysov-Dietzov syndróm
(Later heading) Weillov-Marchesaniho syndróm
UDC C05.116.099.674C14.240.400.725C14.280.400.725C16.131.077.550C16.131.240.400.720C16.320.540C17.300.500 Note 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. 
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Number of the records: 1