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