Musculocontractuaral EDS (mcEDS)

Please note: The following text cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.

What is mcEDS?

mcEDS is an incredibly rare type of EDS and symptoms include congenital multiple contractures, and characteristic cranial and skin features.

What is the cause of mcEDS?

mcEDS is caused by variations in a person’s genes. mcEDS is caused by variations in the CHST14 gene.

How is mcEDS diagnosed?

When diagnosing mcEDS a list of common and relevant signs and symptoms of the condition are used. This is referred to as diagnostic criteria and in the case of mcEDS it is split into a set of major and minor criteria.

The Major criteria

1. Congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot)
2. Characteristic craniofacial features, which are evident at birth or in early infancy
3. Characteristic cutaneous features including skin hyperextensibility, easy bruisability, skin fragility with atrophic scars, increased palmar wrinkling.

The Minor criteria

1. Recurrent/chronic dislocations
2. Pectus deformities (flat, excavated)
3. Spinal deformities (scoliosis, kyphoscoliosis)
4. Peculiar fingers (tapering, slender, cylindrical)
5. Progressive talipes deformities (valgus, planus, cavum)
6. Large subcutaneous hematomas
7. Chronic constipation
8. Colonic diverticula
9. Pneumothorax/pneumohemothorax
10. Nephrolithiasis/cystolithiasis
11. Hydronephrosis
12. Cryptorchidism in males
13. Strabismus
14. Refractive errors (myopia, astigmatism)
15. Glaucoma/elevated intraocular pressure

To meet the diagnostic criteria for MCEDS a person must have:

At birth or in early childhood: Major criterion 1 (Congenital multiple contractures) and 2 (characteristic craniofacial features)

In adolescence and in adulthood: Major criterion 1 (Congenital multiple contractures) and 3 (characteristic) cutaneous features

If a person meets the criteria a genetic test is done to confirm the diagnosis. You can read more about genetic testing for the rare types of EDS here.

How is mcEDS managed?

mcEDS is managed through addressing the symptoms a person is experiencing. This is best done through being in the care of the NHS National EDS service; a specialised service for adults and children who have or are suspected to have a rare type of EDS.

For information about the service and for referral eligibility please click on the following links:

EDS National Diagnostic Service (based in London) covering the South of England

EDS National Diagnostic Service (based in Sheffield) covering the North of England