NCT05702476 | RECRUITING | Rare Diseases

Detailed Description:

Marfan syndrome (MFS, OMIM # 154700) is a rare connective tissue disorder caused by mutations in the gene encoding fibrillin-1 glycoprotein (FBN1), involved in the development of microfibrils. Since FBN1 is a constituent of the connective tissue present at a systemic level, mutations in its gene lead to alterations of the connective tissue, even with pleiotropic effects. The clinical manifestations of MFS are heterogeneous and can occur at any time, from neonatal onset to infancy or adolescence. In this sense, the presence of facial dysmorphism could help in early diagnosis of the disease. Considering the craniofacial features, the phenotypic manifestation related to the syndrome MFS are: dolichocephaly, eyelid down-slanting, malar hypoplasia and retrognathia. However, Few studies have so far studied the facial features associated with MFS. Morevoer, there is a gap in the literature for the evaluation of the progression of facial morphology in the pediatric MFS population as well as potential correlations between facial dysmorphism and other manifestations of the disease.