Ehlers-Danlos syndrome, classic-like, 2- MedGen UID:
- 1632001
- •Concept ID:
- C4693870
- •
- Disease or Syndrome
Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).
For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408.
For a discussion of the classification of EDS, see 130000.