Arterial tortuosity syndrome
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| Arterial tortuosity syndrome Classification and external resources |
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| OMIM | 208050 |
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Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. It is associated with hyperextensible skin and hypermobility of joints. It is autosomal recessive inherited and the responsible gene is located on chromosome 20q13.[1]
[edit] References
- ^ Coucke PJ, Wessels MW, Van Acker P, et al (2003). "Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13". J. Med. Genet. 40 (10): 747–51. PMID 14569121.
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