Musculocontractural EDS (mcEDS)

ESTIMATED PREVALENCE: <1 in 1,000,000 [56]

INHERITANCE PATTERN: Autosomal Recessive

SYMPTOMS [57, 58]:

Musculocontractural EDS (mcEDS) is characterized by unique features usually present at birth or infancy, such as multiple contractures (tightness of muscles that shortens the joints), hypotonia (weak muscle tone), clubfoot, ear deformities, eye disorders, and/or craniofacial defects including large fontanelle (soft spot), blue sclera, high narrow palate, downward slanting or hypertelorism (increased space) of the palpebral fissures (space between the eyelids), or cleft palate. There may also be chest and spinal deformities, urogenital issues, diverticulitis (development of small bulging sacs) of the colon, pneumothorax (when a lung collapses due to air in the chest), abnormalities of the heart, kidneys, or intestines, mild cognitive impairment or delayed physical development.

mcEDS also contains features that are central to other subtypes of EDS, including hyperextensibility, soft, almost doughy or translucent-looking skin, and abnormal scarring. Additionally, there may be small joint hypermobility and stretchy connective tissue.

DIAGNOSTIC CRITERIA [59]:

To diagnose mcEDS, the formula depends on the age of the patient:

Birth/Early Childhood:

Major Criterion #1 + two of Major Criterion #2

To diagnose mcEDS at birth or in early childhood, a patient must have Major Criterion #1 (congenital multiple contractures), plus two of Major Criterion #2 (distinctive craniofacial features). Molecular testing must be used to confirm the diagnosis.

Adolescent/Adulthood:

Major Criterion #1 + three of Major Criterion #2

To diagnose mcEDS in adolescence or adulthood, a patient must have Major Criterion #1 (congenital multiple contractures), plus three of Major Criterion #2 (distinctive craniofacial features). Molecular testing must be used to confirm the diagnosis.

Major Diagnostic Criteria

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

Minor Diagnostic Criteria

  • Recurrent/chronic dislocations
  • Pectus deformities (flat, excavated)
  • Spinal deformities (scoliosis, kyphoscoliosis)
  • Peculiar fingers (tapering, slender, cylindrical)
  • Progressive talipes deformities (valgus, planus, cavum)
  • Large subcutaneous hematomas
  • Chronic constipation
  • Colonic diverticula
  • Pneumothorax/pneumohemothorax
  • Nephrolithiasis/cystolithiasis
  • Hydronephrosis
  • Cryptorchidism in males
  • Strabismus
  • Refractive errors (myopia, astigmatism)
  • Glaucoma/elevated intraocular pressure

Genetic Markers:

CHST14

DSE