Musculocontractural EDS

Musculocontractural Ehlers-Danlos (mcEDS) is inherited by autosomal recessive biallelic mutations in CHST14.

 it is characterised by progressive multisystem complications and associated with developmental delays and hypotonia. There is often facial and cranial structural defects. 

Minimal criteria to suggest a mcEDS diagnosis at birth or early childhood (Major criteria 1 and 2) in adolescence and adulthood (Major criteria 1 and 3). Molecular testing is required to confirm a diagnosis.

Major Criteria:

1. Congenital multiple contractures, characteristically adduction-flexion contractures and/or equinovarus (clubfoot);

2. Characteristic craniofacial features, which are evident at birth or in early infancy; and 

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 finger (tapering, slender, cylindrical);

5. Progressive talips deformities (valgus, planus, cavum);

6. Large subcutaneous hematomas;

7. Chronic constipation;

8. Colonic diverticula;

9. Pneumothorax/pneumohemothorax;

10.Nephrolithiasis/cystolithiasis;

11. hydronephrosis;

12. Cyrtorchidism in males;

13. Strabismus;

14. Refractive errors (myopia, astigmatism);

15. Glaucoma/elevated intraocular pressure. 

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes