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

Recruiting

• Conditions: Rare Diseases; Marfan Syndrome

• Registration Number: NCT05702476
• Lead Sponsor: IRCCS Policlinico S. Donato

Brief Summary

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.

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.

Study Timeline

• Study Start: 2023-01-09
• Study First Submitted: 2023-01-18
• Study First Submitted QC: 2023-01-18
• Study First Posted: 2023-01-27
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-09
• Last Update Posted: 2025-01-13
• Primary Completion: 2026-06
• Study Completion: 2027-06

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 140

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Disease Progression	18 months	Prospective evaluation focused in the craniofacial area in MFS patients

Trial Locations

Locations (1)

IRCCS Policlinico San Donato; 🇮🇹 San Donato Milanese, Lombardia, Italy