Kyphoscoliotic Ehlers-Danlos syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: EDS VI | Ehlers-Danlos syndrome type 6 | Kyphoscoliotic EDS | kEDS

A rare systemic disease for which two subtypes exist either related to the gene PLOD1 or FKBP22 and for which the clinically overlapping characteristics include congenital muscle hypotonia congenital or early-onset kyphoscoliosis (progressive or non-progressive) and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders hips and knees). Additional features which may occur in both subtypes are skin hyperextensibility easy bruising of the skin rupture/aneurysm of a medium-sized artery osteopenia/osteoporosis blue sclerae umbilical or inguinal hernia chest deformity marfanoid habitus talipes equinovarus and refractive errors. Gene-specific features with variable presentation are additionally observed in each subtype.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

Newly diagnosed with
Kyphoscoliotic Ehlers-Danlos syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Zebra CARE Initiative

To bring Charity, Access, Research, and Education (CARE) through and beyond the rare disease, disabled, and medically complex communities for a more inclusive and accessible medical system.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.