Ehlers-Danlos syndrome kyphoscoliotic type 2

An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_bas

An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15.

Signs and symptoms

• Epicanthus
• Poor head control
• Sloping forehead
• Myopathy
• Large joint hypermobility
• Small joint hypermobility
• Hypotonia
• Motor delay
• Redundant umbilical skin
• Waddling gait