Alagille syndrome

General: May be associated with 20p 11.2 deletion and four distinct coding mutations in Jag 1 gene.

Ocular: Posterior embryotoxon and retinal pigmentary changes; anterior chamber anomalies, associated with eccentric or ectopic pupils.

Clinical: Neonatal jaundice; prominent forehead and chin; pulmonic valvular stenosis as well as peripheral arterial stenosis; abnormal vertebrae ('butterfly' vertebrae) and decrease in interpediculate distance in the lumbar spine; absent deep tendon reflexes and poor school performance; in the facies, broad forehead, pointed mandible, and bulbous tip of the nose; and in the fingers, varying degrees of foreshortening.

Alagille D, et al. Hepatic ductular hypoplasia associated with charactenstic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur. J Pediatr 1975; 86:63-71.

LaBrecque DR, Mitros FA. Autosomal dominant transmission of arteriohepatic dysplasia to four generations of a single kindred. Clin Res 1982; 30:285A.

Li L, et al. Alagille syndrome is caused by mutations in human Jagged 1, which encodes a ligand for Notch 1. Nat Genet 1997; 16:243-251.

Raymond WR, Kearney JJ, Parmley VC. Ocular findings in arteriohepatic dysplasia (Alagille's syndrome). Arch Ophthalmol

Romanchuk KG, Judisch GF, LaBrecque DR. Ocular findings in arteriohepatic dysplasia (Alagille's syndrome). Can J Ophthalmol 1981; 16:94-99.

Schnittger S, et al. Alagille-Watson syndrome is assigned to 20 (p1.1-p1.2) and provisionally to the region p1 1.23- P12.1. Cytogenet Cell Genet 1989; 51:1074.

Yuan Z, et al. Mutational analysis of the Jagged 1 gene in Alagille syndrome families. Hum Mol Genet 1998; 7: 363-l369.