<unk>  is one of the main criteria in kyphoscoliotic Ehlers–Danlos syndrome. It is caused by mutation in the PLOD1 gene and/or FKBP14 gene. The diagnosis is confirmed by molecular testing and suggested when a patient meets criteria 1 and criteria 2: congenital muscle hypotonia and congenital or early onset<unk>  (progressive or non-progressive), respectively.
Kyphoscoliosis
Poliosis
Scoliosis
Metaphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
Multiple epiphyseal dysplasia
Hip dysplasia
Swan neck deformity