Musculocontractural Ehlers-Danlos syndrome

Musculocontractural Ehlers-Danlos syndrome (mcEDS), also known as Ehlers-Danlos syndrome musculocontractural type or adducted thumb-clubfoot syndrome, is a rare heritable connective tissue disorder belonging to the Ehlers-Danlos syndrome family. It is caused by biallelic pathogenic variants in the CHST14 gene (mcEDS-CHST14, formerly called mcEDS type 1) or the DSE gene (mcEDS-DSE, formerly called mcEDS type 2). These genes encode enzymes involved in dermatan sulfate biosynthesis, and their deficiency leads to widespread connective tissue fragility affecting multiple organ systems. Key clinical features present from birth include characteristic craniofacial features (large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae), multiple congenital contractures (particularly adducted thumbs and clubfeet), skin hyperextensibility with marked fragility and easy bruising, and progressive multisystem complications. Affected individuals typically develop recurrent skin wounds with atrophic scarring, joint hypermobility (particularly of small joints), kyphoscoliosis, myopathy with muscular hypotonia, and ocular complications including myopia and glaucoma. Cardiovascular features such as mitral valve prolapse and aortic root dilation may also occur. Internal organ fragility can lead to intestinal diverticulae and pneumothorax. There is currently no cure or disease-specific treatment for musculocontractural Ehlers-Danlos syndrome. Management is supportive and multidisciplinary, involving orthopedic care for contractures and scoliosis, dermatological wound management, ophthalmologic monitoring, cardiac surveillance, physical therapy to optimize motor function, and genetic counseling for affected families. Early intervention and regular monitoring of multiple organ systems are essential to manage complications and improve quality of life.

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