EDS1
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