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Kyphoscoliosis Ehlers-Danlos syndrome

Generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth are seen in this type of Ehlers-Danlos syndrome. The muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals with the Kyphoscoliosis Type present with Scoliosis at birth that is progressive. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma.

Tissue fragility including atrophic scars and easy bruising may be seen in the Kyphoscoliosis Type. Spontaneous arterial rupture can occur. Other findings may include: marfanoid habitus (Marfan like features); micro cornea (abnormally small cornea); and radiologically considerable osteopenia (diminished amount of bone tissue).

Kyphoscoliosis Type Ehlers-Danlos syndrome is the result of a deficiency of lysylhydroxylase (PLOD), which is a collagen-modifying enzyme. This type of Ehlers-Danlos syndrome is inherited in an autosomal recessive manner. Kyphoscoliosis Type can be diagnosed through a urine test.

Symptoms of Kyphoscoliosis Ehlers-Danlos syndrome

Progressive scoliosis
Progressive muscle weakness
Fragile sclera
Soft skin
Easy bruising
Joint laxity
Hyperextensible skin
Moderate skin scarring
Ocular fragility
Keratoconus
Lysyl hydroxylase deficiency
Tissue fragility
Arterial rupture
Marfanoid body shape
Small eye
Skeletal osteopenia
Abnormal skin scarring
Reduced muscle tone
Kyphosis
Metabolic abnormalities
Dislocated hip

Causes of Kyphoscoliosis Ehlers-Danlos syndrome

The types of Ehlers-Danlos syndrome are caused by a variety of genetic alterations (mutations), passed on from parent to child, that disrupt the normal production of collagen. Collagen is a fibrous protein that gives strength and elasticity to connective tissues — skin, tendons, ligaments, cartilage, and organ and blood vessel walls.

These genetic mutations alter normal enzyme activity, leaving connective tissues weak and unstable

Inguinal hernia
Retinal detachment
Vision loss

Ehler's Danlos Syndrome picture

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