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EDS1

Friday 14 November 2003

Autosomal dominant disease

Synopsis

- loose-jointedness
- fragile, bruisable skin
- ’cigarette-paper’ scars
- short stature
- narrow maxilla
- hypermobile ears
- lop ears
- myopia
- blue sclerae
- ectopia lentis
- epicanthal folds
- small, irregularly placed teeth
- mitral valve prolapse
- aortic root dilatation
- inguinal hernia
- umbilical hernia
- spontaneous bowel rupture
- bowel diverticula
- osteoarthritis
- joint hypermobility
- joint dislocation (hip, shoulder, elbow, knee, or clavicle)
- pes planus
- fragile skin
- easy bruisability
- cigarette-paper scars
- wide, thin scars
- velvety skin
- poor wound healing
- molluscoid pseudotumors
- spheroids
- hypotonia in infancy
- premature Delivery
- premature birth following premature rupture of fetal membranes

Etiology

- germline mutation
- in the COL1A1 gene coding for type I collagen (COL1s) (MIM.120150)
- in the COL5A1 and COL5A2 genes, which encode type V collagens (COL5s).

Features

- Ehlers-Danlos syndrome