Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment (FACE)

San Donato Group (GSD)

Status: Enrolling

Conditions: Marfan Syndrome; Rare Diseases

Study type: Observational

Funder types: Other

Identifiers

NCT05702476

FACE

Details and patient eligibility

About

The goal of this study observational prospective study is to define the facial morphological features associated with Marfan syndrome (MFS). The main qustion it aims to answer are:

1. To describe the facial morphological features associated with MFS and their evolution over time;
2. To study the association between facial morphology and the features of reference for the diagnosis of MFS.

Full 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.

Enrollment: 140 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• White european ethnicity;
• Signed informed consent;

Exclusion criteria

• Previous relevant traumas affecting the craniofacial district or maxillofacial surgery;
• Presence of beard and mustache;
• Pregnancy

Trial design

140 participants in 2 patient groups

MFS Adult patients

Description:

Patients with clinical and/or gentic diagnosis of MFS older than 18 years

MFS Paediatric patients

Description:

Patients with clinical and/or gentic diagnosis of MFS younger than 18 years