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Other Types

 

Kyphoscoliosis (Formerly EDS Type VI)

Generalized joint laxity and severe muscle hypotonia (weak muscle tone) at birth are seen in this type of EDS. The muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals with the Kyphoscoliosis Type exhibit 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 EDS is the result of a deficiency of lysylhydroxylase (PLOD), which is a collagen-modifying enzyme. This type of EDS is inherited in an autosomal recessive manner. Kyphoscoliosis Type can be diagnosed through a urine test.

 

Arthrochalasia (Formerly EDS Type VII A&B)

Congenital hip dislocation has been present in all biochemically proven individuals with this type of EDS. Individuals often have severe generalized joint hypermobility with recurrent subluxations. Other manifestations of this type may include: skin hyperextensibility with easy bruising; tissue fragility including atrophic scars; muscle hypotonia; kyphoscoliosis; and radiologically mild osteopenia.

The Arthrochalasia Type is caused by mutations leading to deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. It is inherited in an autosomal dominant manner. A skin biopsy can also diagnose this type of EDS.

 

Dermatosparaxis (Formerly EDS Type VIIC)

Individuals with Dermatosparaxis Type EDS have severe skin fragility and substantial bruising. Wound healing is not impaired and the scars are not atrophic. The skin texture is soft and doughy. Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias (umbilical, inguinal) may also be seen. The number of patients reported with this type of EDS is small.

Dermatosparaxis Type EDS is caused by a deficiency of procollagenI N-terminal peptidase. It is inherited in an autosomal recessive manner. A skin biopsy can diagnose this type of EDS.

Other Types

The previous EDS Type V (X-linked) had been described in a single family. It is a rare variant and the molecular basis of which remains unknown.

The previous EDS Type VIII is similar to the Classical Type, except that in addition it presents with periodontal friability. The existence of this syndrome as an autonomous entity remains uncertain.

The EDS Type IX was previously redefined as "Occipital Horn syndrome", an X-linked recessive condition allelic to Menkes syndrome. This was previously removed from the EDS classification.

The previous EDS Type X has been described in only one family.

The EDS Type XI termed "Familial Joint Hypermobility syndrome" was previously removed from the EDS classification. Its relationship to the EDS is not yet defined, and it may be a mild variant of Hypermobility Type.

Forms of EDS within this unclassified category may present with soft, mildly stretchable skin, shortened bones, chronic diarrhea, joint hypermobility and dislocation, bladder rupture, or poor wound healing. Inheritance patterns within this group include X-linked recessive, autosomal dominant and autosomal recessive. Examples of these syndromes include: Beasley-Cohen Type, Progeroid form - B4GALT7, Friedman-Harrod Type, Tenascin-X deficiency - TNXB and Musculocontractural type - CHST14.

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