Disorders

Ehlers-Danlos Syndrome, Musculocontractural Type

Synonym(s): Adducted Thumb-Clubfoot Syndrome, ATCS, Distal Arthrogryposis with Peculiar Facies and Hydronephrosis, Dundar Syndrome, Ehlers-Danlos Syndrome, Type VIB

OMIM

Gene	Locus	Protein
CHST14	15q15.1	Carbohydrate sulfotransferase 14

Laboratory	Test Method	Prenatal	Carrier *
CGC Genetics - Porto, Portugal
Connective Tissue Gene Tests - Allentown, PA, USA
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.