Marfan Syndrome is a genetic disorder of the connective tissue that is inherited in an autosomal dominant pattern. It is caused by mutations in the FBN1 gene which encodes the protein fibrillin-1. Common signs include tall stature, long limbs, long fingers, joint laxity, scoliosis, chest deformities, eye problems like nearsightedness, and aortic root dilation. Dentally, patients often have a high-arched palate, crowded teeth, and may require orthodontic or orthognathic treatment. Surgery must be carefully coordinated with a cardiologist due to risks of aortic complications.

1. Marfan Syndrome
Cobey, Marjorie P.
DMD2D

2. 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

3. • 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.

4. • 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

5. • 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)

6. 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

7. • 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.

8. • 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

9. 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

10. 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

11. • 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

12. 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