Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Synonyms: Cutis hyperelastica | EDS VIA | Ehlers-Danlos syndrome type 6A | Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency | Lysyl hydroxylase-deficient EDS | Ocular-scoliotic EDS | kEDS-PLOD1
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by 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 common features 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. Subtype-specific manifestations include skin fragility atrophic scarring scleral/ocular fragility/rupture microcornea and facial dysmorphology (like low‐set ears epicanthal folds down‐slanting palpebral fissures high palate). Molecular testing is obligatory to confirm the diagnosis.
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 April 2024
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Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency?
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Advocacy Organizations
Ehlers-Danlos Syndromes New Zealand
Our Mission is to improve the wellbeing of those with Ehlers-Danlos Syndromes/Hypermobility Spectrum Disorders in Aotearoa New Zealand by raising awareness, improving knowledge by health professionals and providing support to patients.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
Pathways To Trust
To elevate the patient's voice to increase access to care and eliminate bias by bringing stakeholders together.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Marfan Foundation
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.
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.
Clinical Trials
For a list of clinical trials in this disease area, please click here.