Alagille syndrome

The Alagille syndrome ( ALGS, also Alagille -Watson syndrome or arteriohepatische dysplasia) is a rare genetic disease that is inherited as an autosomal dominant. The incidence of the disease is not precisely known. It is estimated at 1 in 70,000 to 1:100,000.

Cause and pathogenesis

The mode of inheritance is autosomal dominant. The penetrance is 100 %, the expressiveness or the phenotype, however, is highly variable. It describes two subtypes, a mutation of the gene locus chromosome 20p12 - jagged -1 ( ALGS1 ) or a mutation of the gene locus chromosome 1p13 - p11 in NOTCH2 ( ALGS2 ). The rate of new mutations is estimated to be about 50%.

Clinical features

The syndrome is characterized by

• Biliary obstruction ( cholestasis ) with standing in the foreground jaundice of the newborn,
• Typical abnormalities of the face ( broad forehead, deep-set eyes, hypertelorism, narrow chin ) and skeletal anomalies ( butterfly vertebrae, distal phalanges short, clinodactyly, shortened ulna)
• Heart disease ( pulmonary artery stenoses and other heart defects ).

Treatment

Treatment is symptomatic, in severe cases, a liver transplant is necessary.

History

The describer Daniel Alagille ( born 1925 ) is a Frenchman and an emeritus professor of pediatrics at the University of Paris -Sud.