Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

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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 Data version December 2023

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