Maffucci Syndrome

Maffucci Syndrome

Share This Post

What is Maffucci Syndrome?

 

Maffucci syndrome is an illness that mainly affects the skin and bones. It shows numerous enchondromas that are noncancerous (benign) growths of cartilage which develop in the bones. Enchondromas may cause severe bone abnormalities, shortening of the limbs, as well as fractures. These progressions most normally happen in the limb bones, particularly in the bones of the hands and feet.

Signs and Symptoms

The indications of Maffucci syndrome may be visible at birth, though they mostly do not become obvious until around the age of 5. Enchondromas grow near the ends of bones, where ordinary growth occurs. They often stop developing after affected individuals stop growing in early adulthood. Individuals who have this disorder usually have short figure and underdeveloped muscles as a result of the bone deformities caused by Maffucci Syndrome.

Cause of Maffucci Syndrome

In most people with Maffucci syndrome, the ailment is caused by mutations in the IDH1 or IDH2 gene. These genes provide orders for creating enzymes known as isocitrate dehydrogenase 1 and also isocitrate dehydrogenase 2, respectively. These enzymes transform a compound known as isocitrate to another compound called 2-ketoglutarate. This reaction also creates a molecule called NADPH that is needed for several cellular processes. IDH1 or IDH2 gene mutations results in the enzyme produced from the respective gene to yield on a new, abnormal function. Even though these mutations have been originated in some cells of hemangiomas and enchondromas in individuals with Maffucci syndrome, the correlation between the signs and symptoms and the mutations of the disorder is not well understood.

People with Maffucci syndrome ordinarily have a normal lifespan, and intellect is not affected. The degree of their physical impairment depends on their distinct skeletal deformities, however in utmost cases they have no major boundaries in their activities.

Are you suffering from this condition or other foot problems? At The Chelsea Clinic, we offer bunion treatment. One of our podiatrist can assist and then recommend what nonsurgical treatments are best to get you back on track.
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

 

 

Check our blog about Ollier’s Disease https://www.thechelseaclinic.uk/olliers-disease/

Read our blog about Bruised Toenail https://www.thechelseaclinic.uk/bruised-toenail/

Learn more about Tennis Toe https://www.thechelseaclinic.uk/tennis-toe/

More To Explore

Onychophagia
Uncategorized

Onychophagia

Onychophagia   The medical term for nail biting is onychophagia.  It is a typical stress- or anxiety-related habit in both kids and adults.  It involves

Toe and Foot Stress
Uncategorized

Toe and Foot Stress

Toe and Foot Stress: It’s the month of June and we are now halfway through the year   Summer is here again and we have

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.

OPEN for online video consultations for new and existing clients.  Call 020 7101 4000

Book your session:
020 7101 4000
info@thechelseaclinic.uk

*With the current covid-19 situation and government guidelines constantly evolving we can also discuss the benefits of a home visit if you are classed as high risk and require emergency intervention.