Marfan syndrome is a genetic disorder that affects multiple organs, and it also presents particular dental and maxillofacial abnormalities. 

This article provides a general overview of Marfan syndrome and its particular dental and maxillary features.

Introduction

Definition of Marfan syndrome

Genetic disorder affecting connective tissue

Marfan syndrome is a mendelian, heritable, autosomal dominant, rare disorder. Connective tissue-related organs such as the heart, lungs, and bones are affected. The quantity or quality of microfibrillar glycoprotein fibrillin is decreased due to a mutation in the Fibrillin-1 gene (FBN1), located on chromosome 15.⁴

Prevalence

The prevalence of Marfan syndrome is about one or two cases per 10000 people, it can be equally presented in either women or men.²

Overview of Marfan syndrome

Genetics and pathophysiology

FBN1 encodes the protein Fibrilin-1, which is found in the extracellular matrix (ECM) as microfibrils. These microfibrils play a role in the storage of elastin that imparts the necessary elasticity to connective tissues. Mutations in the FBN1 gene cause abnormal elastic fiber formation, leading to clinical manifestations in organs with connective tissue.⁵

Clinical manifestations

Several clinical manifestations can be observed in different parts of the body, such as the following:

Musculoskeletal⁵

• Long extremities
• Scoliosis
• Pectus deformities
• Flat feet
• Wrist and thumb sign

Cardiovascular⁵

• Aortic aneurysm
• Mitral prolapse
• Tricuspid prolapse
• Cardiomyopathy
• Arrhythmias

Ocular⁵

• Endophthalmos (abnormal orbit volume)
• Hypertelorism (abnormal increased distance between the orbits of the eye)
• Myopia and astigmatism
• Ectopia lentis 
• Retinal detachment

Pulmonary⁵

• Chronic obstructive pulmonary disease
• Apnea
• Restrictive lung disease

Cutaneous⁵

• Stretch marks or striae 

Neurologic⁵

• Dural ectasia (dilatation of the neural canal)
• Chronic back pain
• Postural headaches

Dental abnormalities in Marfan syndrome

The stomatognathic system is not exempt from clinical manifestations due to its connective tissue. Patients with a Marfan syndrome diagnosis can present with varied dental and maxillofacial abnormal features, such as the following:

Common dental defects²

• Enamel and dentin alterations
• Long narrow teeth
• Overjet
• Posterior crossbites
• Malocclusion
• Periodontitis

Maxillofacial abnormalities²

• Dolichocephalism
• Enophthalmos
• Palatal vault
• Maxillary retrognathism
• Mandibullar retrognathia
• Hiperlax temporomandibular joint 

Diagnosis and assessment

The diagnosis is based on the family history and clinical examinations of the patient, in which a common triad of signs is presented: ocular, cardiovascular, and musculoskeletal manifestations.²

Management and treatment

There is no curable treatment for Marfan syndrome. However, an early diagnosis and correct management of clinical manifestations can help patients have a normal average life expectancy.⁶

Pharmacological medications

To control blood pressure, antihypertensive drugs are often indicated to avoid cardiovascular complications like aortic aneurysms.⁶

Surgeries⁶

• Aortic repair
• Scoliosis surgery
• Breastbone surgery
• Eye surgeries

Orthodontic interventions

To correct malocclusion and maxillofacial abnormalities, orthodontic treatment will be indicated. For severe cases, orthognathic surgery can be required. Medical conditions have to be considered along with the dental treatment.³

Coping and support

Along with a big clinical impact, Marfan syndrome also has a social and emotional impact on patients´ lives. Adult patients might be concerned about career development, relationships, and offspring's difficulties. While young patients might be concerned about sports activities and cosmetic appearance.⁶

Apart from medical professionals and family assistance, supporting groups are beneficial for patients who have Marfan syndrome.⁶

Summary

• Marfan syndrome is a rare hereditary disorder which affects several organs
• Typical phenotypic musculoskeletal and maxillofacial features can be observed
• Dental problems, such as Malocclusion and major overjet, lead patients to orthodontic dental treatment.
• The diagnosis is mainly clinical and supported by additional screening studies
• There is no cure for this syndrome, but patients can have a normal life expectancy if symptoms are treated appropriately