Marfan Syndrome

Cobey, Marjorie P.DMD2D

Definition

• Also called Marfan's syndrome• It is a genetic disorder of the connective tissue• People with Marfan's tend to be unusually tall,

with long limbs and long, thin fingers.• The syndrome is inherited as a dominant trait,

carried by the gene FBN1, which encodes the connective protein fibrillin-1

• Marfan syndrome is caused by a single gene for fibrillin on chromosome 15, which is inherited in most cases from an affected parent.

• Fibrillin-1 plays an important role as the building block for connective tissue in the body.

• The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome

• The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)

Signs and Symptoms

• Affects the eyes & vision. Nearsightedness and astigmatism are common, but farsightedness can also result

• Lens dislocation in Marfan's syndrome; the lens was kidney-shaped and was resting against the ciliary body

• People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- called arachnodactyly. When they stretch out their arms, the length of their arms is greater than their height.

• A chest that sinks in or sticks out -- funnel chest or pigeon breast

• Flat feet• One of the hidden signs of Marfan's

syndrome is the high arched palate crowded teeth

Dental Correlation• Patients typically have a high-arched palate

produced by a narrow maxilla and skeletal Class II malocclusion due to mandibular retrognathia

• Individuals affected by the syndrome routinely seek orthodontic treatment to correct the orofacial manifestations

Generalized gingival inflammation was seen consistently at each visit during treatment. (A) Frontal. (B) Right buccal. (C) Left buccal.

• Orthognathic surgery sometimes is required to correct severe orofacial discrepancies in patients with Marfan syndrome

• The treating orthodontist may be apprehensive of including a surgical procedure in the treatment plan because of potential complications related to surgery

• Surgeons should work closely with the patients’ cardiologists when planning treatment

Classification• It is a single gene disorder• Autosomal Dominant Inheritance• Autosomal dominant inheritance means that

the gene is located on one of the autosomes (chromosome pairs 1 through 22)

• The gene for Marfan syndrome, called fibrillin-1, is localized to chromosome #15 on the long arm (q) at 15q21.1