Ehlers-Danlos syndrome due to tenascin-X deficiency is an autosomal recessive disorder caused by mutations of the TNXB gene. It is characterizes by hyperelasticity of the skin due to collagen dysplasia.
|Inborn skeletal malformations|
|Congenital contractural arachnodactyly|
|Ehlers-Danlos syndrome due to tenascin-X deficiency|
|Multiple synostoses syndrome|
|Multiple synostoses syndrome 3|
|Orofacial cleft 11|
|Periodontal Ehlers-Danlos syndrome|
|Renal tubular acidosis with arthrogryposis|
|Stapes ankylosis with broad thumbs and toes|
|Syndactyly type 5|
|Synpolydactyly type 1|
|Tarsal-carpal coalition syndrome|
|Van Maldergem syndrome 2|
Burch GH et al. (1997) Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.
Schalkwijk J et al. (2001) A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.
Zweers MC et al. (2003) Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.
Zweers MC et al. (2005) Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.
Pénisson-Besnier I et al. (2013) Compound heterozygous mutations of the TNXB gene cause primary myopathy.
Larsson LG et al. (1987) Hypermobility: features and differential incidence between the sexes.
Rikken-Bultman DG et al. (1997) Hypermobility in two Dutch school populations.
Kirschner J et al. (2005) Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes.
Lindor NM et al. (2005) Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome.
Voermans NC et al. (2007) Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies.
Voermans NC et al. (2009) Neuromuscular involvement in various types of Ehlers-Danlos syndrome.
Chen W et al. (2009) The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.
Voermans NC et al. (2014) Compound heterozygous mutations of the TNXB gene cause primary myopathy.
OMIM.ORG articleOmim 606408
Orphanet articleOrphanet ID 230839