Autosomal Dominant Diseases
- Marfan Syndrome
- Li-Fraumeni Syndrome (LFS)
- Job (Hyper IgE) Syndrome
- Hereditary Spherocytosis
- von Hippel-Lindau (VHL)
- MEN 1
- MEN 2
- Von Recklinghausen Disease (NF I)
- Neurofibromatosis Type II (NF II)
- Myotonic Dystrophy
Marfan Syndrome is an inherited connective tissue disorder that affects a person's heart, blood vessels, and skeleton.
It is caused by a mutation in fibrillin-1, which is located on chromosome 15. Marfan syndrome has a number of characteristic clinical findings, such as marfanoid habitus (tall and thin statue), upward and outward lens displacement (ectopia lentis), mitral valve prolapse, and aortic dissection.
Find Marfan Syndrome and other Autosomal Dominant Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.