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CHST14, DSE, and the Musculocontractural Type of Ehlers-Danlos Syndrome (Adducted Thumb–Clubfoot Syndrome) 

CHST14, DSE, and the Musculocontractural Type of Ehlers-Danlos Syndrome (Adducted Thumb–Clubfoot Syndrome)
Chapter:
CHST14, DSE, and the Musculocontractural Type of Ehlers-Danlos Syndrome (Adducted Thumb–Clubfoot Syndrome)
Author(s):

Andreas R. Janecke

DOI:
10.1093/med/9780199934522.003.0209
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date: 27 February 2021

The musculocontractural type of Ehlers-Danlos syndrome (MCEDS), also referred to as adducted thumb-clubfoot syndrome (ATCS), represents an autosomal-recessive disorder characterized by typical facial appearance, wasted/Marfanoid build, pectus deformities, hyperextensible and bruisable skin, congenital contractures of thumbs and feet, development of wrist and digital contractures, instability of large joints, anomalous insertions of flexor muscles, a coagulopathy, and variably congenital heart, kidney, and intestinal defects and cleft lip/palate. Gross motor development is generally delayed, while the cognitive development is normal. Strabismus, refractive errors, and elevated intraocular pressure, as well as hearing impairment are common in these patients. Patients present with muscle hypoplasia and weakness, and there is evidence for an underlying myopathy. The condition is caused by a deficiency of dermatan sulfate moeities in connective tissues. Mutations in two genes, CHST14 and DSE, encoding two enzymes necessary for dermatan sulfate biosynthesis, N-acetylgalactosamine 4-O-sulfotransferase 1 and dermatan sulfate epimerase, were identified as the cause of this generalized connective tissue disorder and inborn error of development.

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