Wednesday, 6 November 2013

Syndromes

Williams syndrome
Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin D, idiopathic hypercalcemia of pregnancy.  Due to deletion in elastin gene and probably several adjacent genes on 7q.
Stickler syndrome
Mild spondyloepiphyseal dysplasia, osteoarthritis, and sensorineural hearing loss, some forms associated with a autosomal dominant negative mutation in the human COL11A2 gene encoding the alpha 2(XI) chain; another form of Stickler syndrome  from mutation in COL2A1.

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