Ehlers-Danlos syndrome kyphoscoliotic type 1

An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation

An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.

Signs and symptoms

• Hypotonia
• Microcornea
• Muscle weakness
• Kyphoscoliosis
• Downslanted palpebral fissures
• Joint hypermobility
• Platyspondyly
• Thin ribs
• Protrusio acetabuli
• Osteopenia