What is Musculocontractural Ehlers-Danlos (mcEDS)?

Musculocontractural Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder. Symptoms of McEDS may include birth defects, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development. This syndrome is caused by genetic changes in the CHST14 gene.

Musculocontractural EDS is inherited in the autosomal recessive pattern (both parents must hold a copy of this gene in their genetic inheritance).

Source: [1 Musculocontractural Ehlers-Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)]

Signs & Symptoms of Musculocontractural EDS

Individuals with Musculocontractural EDS may have the following features:

  • Thin upper lip vermilion
  • Subcutaneous haemorrhage
  • Slender fingers
  • Small nose
  • Scoliosis
  • Recurrent joint dislocations
  • Protruding ears
  • Prominent smile lines
  • Narrow mouth
  • Muscular weakness
  • Low-set posteriorly rotated ears
  • Widened interpupillary distance
  • Hyperextensible skin
  • Generalised joint laxity
  • Disproportionate tall stature
  • Delayed gross motor development
  • Decreased muscle mass
  • Bruising susceptibility
  • Blue sclerae
  • Atrophic scars
  • Abnormality of the cervical spine
  • Abnormal sternum morphology

Occasionally there may be other features present including:

  • Tapered finger
  • Retinal detachment
  • Sagging, redundant skin
  • Recurrent skin infections
  • Ocular hypertension
  • Myopia
  • Kyphoscoliosis
  • Constipation
  • Astigmatism
  • Pneumothorax
  • Functional abnormality of the bladder

Source: [1 Musculocontractural Ehlers-Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)]

Diagnosis of Musculocontractural Ehlers-Danlos Syndrome

There are three major criteria, and fifteen minor criteria. The minimum criteria required to suggest mcEDS are: at birth or in early childhood, major criteria 1 and 2; in adolescence and adulthood, major criteria 1 and 3.

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

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

A final diagnosis requires confirmation through molecular testing. Musculocontractural EDS is caused by biallelic mutations in CHST14. A few mutations have been identified in the DSE gene in patients with a similar phenotype.

Sources:  [1 Musculocontractural Ehlers-Danlos syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)] [2 Ehlers-Danlos Society] [3 2017 International Classification of the Ehlers-Danlos Syndromes]

Support for Musculocontractural Ehlers-Danlos Syndrome

Please feel free to join our Nationwide Support Group “Loosely Speaking” on Facebook, or check out our more localised support groups to see if there is one within your area.

EDSNZ are working at compiling a list of resources of services and support you may be interested in. Among these are: