Musculocontractural Ehlers Danlos Syndrome: Causes, Symptoms, and Treatment

Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.

What kind of doctor treats Musculocontractural Ehlers Danlos Syndrome?

A primary care doctor is usually the first stop, then a medical geneticist confirms the diagnosis; other specialists may join depending on symptoms. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.

What is musculocontractural Ehlers Danlos syndrome?

Musculocontractural Ehlers Danlos syndrome is a rare inherited condition that affects the connective tissue. Connective tissue is the material that holds the body together and gives skin, joints, and organs their structure. People with this condition often have very stretchy skin, joints that bend more than normal, and birth defects in certain organs. It is one of several types of Ehlers Danlos syndrome, a group of disorders that share problems with connective tissue.

In this condition, the body has trouble making a substance that helps connective tissue form properly, causing overly flexible joints, stretchy skin, and tight fingers and toes from birth.

Symptoms

Signs vary from person to person. Common features include:

  • Joints that bend beyond the normal range, causing frequent dislocations.
  • Stretchy skin that bruises or scars easily.
  • Tight fingers and toes, often noticed at birth.
  • Unusual facial features, urinary or genital problems, or nearsightedness.
  • Hernias.

Causes and who gets it

It is genetic, usually caused by changes in the CHST14 or DSE genes, and can be inherited or appear for the first time in a child.

How doctors diagnose it

Doctors start with a physical exam and family history. Genetic testing is the main way to confirm the diagnosis.

Treatment

There is no cure, but treatment can ease symptoms through physical therapy, braces for loose joints, and surgery for hernias or organ problems, with regular checkups.

When to see a doctor

See a doctor for very stretchy skin, joints that dislocate often, or unusually tight fingers and toes. Get urgent care if a joint will not go back into place.

How a direct primary care or concierge doctor fits in

Direct primary care doctors charge a flat monthly fee instead of billing insurance; concierge doctors usually charge more and often work alongside insurance. Either can manage everyday care while referring to specialists.

Common questions

Is musculocontractural Ehlers Danlos syndrome the same as regular Ehlers Danlos syndrome?

Ehlers Danlos syndrome is a group of related conditions, and this is one specific type. It stands out because of the tight fingers and toes at birth. It also carries a higher chance of organ and urinary tract problems. Genetic testing can tell the types apart.

Can it be cured?

There is no cure today. Treatment focuses on protecting the joints, watching the organs, and fixing problems as they come up. How well someone does varies from person to person.

Will my children inherit it?

It depends on the gene change and how it was passed down. Some children inherit it when both parents carry one copy of the changed gene. In other families, one affected parent can pass it on. A genetic counselor, a trained expert in inherited conditions, can explain the chances for a specific family.

Is surgery dangerous for people with this condition?

Surgery can be more complicated because the skin may heal poorly and tissue can be fragile. That does not mean surgery is off limits. Surgeons who know about connective tissue disorders can plan carefully. The care team weighs the benefits against the risks for each person.

Sources

  1. NIH Genetic and Rare Diseases Information Center - Ehlers-Danlos syndrome, musculocontractural type
  2. The Ehlers - Danlos Society - What is EDS?

Medical Disclaimer

This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.