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

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.

Study Overview

• Status: Recruiting
• Conditions: Marfan Syndrome; 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.

• Study Type: Observational
• Enrollment (Estimated): 140

Contacts and Locations

• Study Contact: Name: Alessandro Pini, MD; Phone Number: +390252774705; Email: alessandro.pini@grupposandonato.it

Study Locations

• Italy
  • Lombardia
    • San Donato Milanese, Lombardia, Italy, 20097
      • Recruiting
      • IRCCS Policlinico San Donato
      • Contact: Alessandro Pini, MD; Phone Number: +390252774705; Email: alessandro.pini@grupposandonato.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with clinical and/or genetic diagnosis of MFS currently in follow-up at Cardiovascular Genetic Cenrte, IRCCS Policlinico San Donato.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
MFS Adult patients; Patients with clinical and/or gentic diagnosis of MFS older than 18 years
MFS Paediatric patients; Patients with clinical and/or gentic diagnosis of MFS younger than 18 years

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Disease Progression	Prospective evaluation focused in the craniofacial area in MFS patients	18 months

Collaborators and Investigators

• Sponsor: IRCCS Policlinico S. Donato
• Collaborators: University of Milan
• Investigators: Principal Investigator: Alessandro Pini, MD, Cardiovascular-Gentic Centre, IRCCS Policlinico San Donato

Study record dates

Study Major Dates

• Study Start (Actual): January 9, 2023
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2027

Study Registration Dates

• First Submitted: January 18, 2023
• First Submitted That Met QC Criteria: January 18, 2023
• First Posted (Actual): January 27, 2023

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: January 9, 2025
• Last Verified: January 1, 2025

More Information

Terms related to this study

• Keywords: Marfan syndrome; Rare Diseases; Facial features
• Additional Relevant MeSH Terms: Bone Diseases; Musculoskeletal Diseases; Cardiovascular Diseases; Pathologic Processes; Heart Diseases; Disease Attributes; Genetic Diseases, Inborn; Connective Tissue Diseases; Disease; Musculoskeletal Abnormalities; Congenital Abnormalities; Cardiovascular Abnormalities; Heart Defects, Congenital; Abnormalities, Multiple; Bone Diseases, Developmental; Limb Deformities, Congenital; Syndrome; Rare Diseases; Marfan Syndrome; Arachnodactyly
• Other Study ID Numbers: FACE

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No