Table 1 Major and minor clinical criteria in EDS (adapted from) [14]

• Skin hyperextensibility

PLOD1

• Easy bruisable skin

• Skin fragility

• Congenital muscle hypotonia

• Rupture/aneurysm of a medium-sized artery

• Scleral and ocular fragility/rupture

• Osteopenia/osteoporosis

• Microcornea

• Congenital or early onset kyphoscoliosis

• Blue sclerae

FKBP14

• Hernia (umbilical or inguinal)

• Congenital hearing impairment

• General Joint Hypermobolity

• Pectus deformity

• Follicular hyperkeratosis

• Marfanoid habitus

• Muscle atrophy

• Talipes equinovarus

• Bladder diverticula

• Refractive error (myopia, hypermetropia)