“What causes a child to develop Marfin syndrome?”

Marfan syndrome is cause by a mutation in a gene called fibrillin-1 (FBN1). This gene mutation limits the body’s ability to build connective tissue. One in four people with Marfan syndrome the cause is unknown, and they have one in two chances of passing it on their child. Thank you.

75% of cases are due to it being inherited from the parents. It is autosomal dominant which means that the gene may be inherited from 1 or both parents in 75% of cases. It is usually followed by a pediatric cardiologist because it will result in weakness of the elastic tissue in the body. The aorta requires elastic to have a strong wall and in Marfans Syndrome, aortic aneurysms occur that can rupture and result in death unless they are prevented. The patient should be seen by specialists (geneticist and pediatric/adult cardiologist at an early age to prevent aortic aneurysms by blood pressure control. The other 25% of cases are due to spontaneous mutations which are not from either parent.

It is a inherited autosomal dominant disease. It has may presentations: I have copied the information in more details from UpToDate “ One of the most common inherited disorders of connective tissue, Marfan syndrome (MFS, MIM #154700) is a predominantly autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals [1,2]. There is a broad range of clinical severity associated with MFS and related disorders, ranging from isolated features of MFS to neonatal presentation of severe and rapidly progressive disease involving multiple organ systems [3]. Although many clinicians view the disorder in terms of classic ocular, cardiovascular, and musculoskeletal abnormalities (picture 1), manifestations also include involvement of the lung, skin, and central nervous system.

The genetics, pathogenesis, clinical manifestations, and diagnosis of MFS and related disorders will be reviewed here. The management of patients with MFS and related disorders and issues related to pregnancy are discussed separately. (See "Management of Marfan syndrome and related disorders" and "Pregnancy and Marfan syndrome".)” please refer to this information and the source is UpToDate