Ehlers-Danlos syndrome, hydroxylysine-deficient

Common Name(s)

Ehlers-Danlos syndrome, hydroxylysine-deficient

The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility ({2:Beighton et al., 1998}). {2:Beighton et al. (1998)} reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.' The major characteristics of EDS VI are severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe ({2:Beighton et al., 1998}). Nevo syndrome, previously thought to be a distinct entity, is identical to EDS type VI ({30:Voermans et al., 2009}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ehlers-Danlos syndrome, hydroxylysine-deficient" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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