By Gary M. White, MD
Alagille syndrome (AS) is characterized by hypoplasia of the hepatic ducts. It is an autosomal dominant disorder associated with abnormalities of the liver, heart, skeleton, eye, and kidneys, and a characteristic facial appearance.
- Patients with AS can have severe cutaneous xanthomas.
- AS is caused by mutations in one of two genes: JAG1 and NOTCH2. Up to 98% are caused by mutations in JAG1 and 2% are caused by mutations in NOTCH2.
- The pattern of facial features observed in children with ALGS includes a high forehead with frontal bossing or flattening, deep-set eyes with moderate hypertelorism, pointed chin, and saddle or straight nose with a bulbous tip.
This article has a nice picture of xanthomas on the legs in a patient with Alagille syndrome. Appl Clin Genet. 2016; 9: 75–82
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