Marfan Syndrome 

Marfan Syndrome

Share This Post

Marfan Syndrome


Marfan syndrome is a genetic disorder that affects the body’s connective tissue, contributing to abnormalities in various parts of the body, including the skeleton, eyes, heart and blood vessels.  It is caused by a mutation in the FBN1 gene, responsible for producing a protein called fibrillin-1, which is essential for providing strength and elasticity to connective tissues.

Individuals with Marfan syndrome may have a tall, slender build with long limbs, fingers and also toes.  The damage caused by this illness can be mild or severe.

Moreover, this condition affects men and women equally and occurs among all races and ethnic groups.  Because it’s a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder.

Symptoms of Marfan syndrome

The signs and symptoms of Marfan syndrome can vary greatly, even among members of the same family, because the disorder can affect so many different areas of the body.  Some people experience only mild effects but others develop life-threatening complications.

Some features may include:

  • Tall and slender build
  • Disproportionately long arms, legs and fingers
  • A breastbone that protrudes outward or dips inward
  • A high, arched palate and crowded teeth
  • Heart murmurs
  • Extreme nearsightedness
  • An abnormally curved spine
  • Flat feet


Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.

Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder.  Each child of an affected parent has a 50-50 chance of inheriting the defective gene.  In about 25% of the people who have this condition, the abnormal gene comes from neither parent.  In these cases, a new mutation develops spontaneously.

Moreover, diagnosing this condition involves a clinical evaluation based on a set of criteria called the Ghent nosology, which considers various physical features, family history and imaging tests to assess the heart and blood vessels.

Are you suffering from any foot condition?  At The Chelsea Clinic, we can help.  One of our podiatrist can assist and then recommend what treatments are best to get you back on track. Podiatrist South Kensington
Schedule an appointment here or you may call us at +44 (0) 207 101 4000


We hope you have a feetastic day!

-The Chelsea Clinic and Team



Learn more about Fungal Nails

More To Explore

Morton's neuroma

Morton’s Neuroma: The nerve of it!

Morton’s Neuroma: The nerve of it!   Today we are going to discuss this quite common, very painful and almost disabling foot condition.  If you

Bruised Toenail

What is Bruised Toenail?

What is Bruised Toenail?   A bruised toenail, also known as a subungual hematoma, occurs when blood collects underneath the toenail due to trauma or

Chiropodist Chelsea SW10

Paola Ash at the Chelsea Clinic

At The Chelsea clinic we have a very specific skill set with regards the foot and ankle. Pleased to offer a bespoke service which is tailored to the individual. With over 20 years experience in the Fitness and Healthcare industry we are registered and qualified with the Health Care Professions Council, the College of Podiatry and the General Osteopathic Council.