Alagille syndrome (AS) is an autosomal dominant disorder showing genetic predominance of one parent mainly seen in infants having severe cholestatic jaundice and heart murmurs. Therefore, such patients are diagnosed incidentally while screening a liver dysfunction or cardiac patient. It is associated with various abnormalities in liver, skeleton, impaired growth, eyes, kidneys and heart. Such patients exhibit a peculiar and characteristic facial appearance.
It is also known as arteriohepatic dysplasia.
Pathophysiology: Localized mutation of the JAG1 gene (20p12) occurs with variable expression.
The various features seen in the head and neck region in Alagille Syndrome are broadened forehead, pointed chin, elongated nose with bulbous tip. Mental retardation along with poor growth is also reported. These features become more pronounced as the age progresses.
Dentition shows hypoplastic lesions with heavy discoloration of teeth. Due to poor oral hygiene and the ill effects of medications prescribed to the patient to counter the effects of graft rejection (liver and heart). The gingival condition is bad showing signs of inflammation and edema. So, a dental consultation is must for a patient planned or undergoing treatment of this syndrome.
The various medications given to improve the bile flow and reduce itching are Ursodiol, Hydroxyzine, Cholesysteramine and Phenobarbitol. High doses of multivitamins like A, D, E, K prove to a successful measure to treat Alagille syndrome. Oral prophylaxis is mandatory. Corrective surgeries are also done in these cases.
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