FaCD Online Syndrome Fact Sheet

Last updated: 26 Jan 2011

Name: Alagille Syndrome

Synonym: ALGS1, ALGS2.Alagille-Watson syndrome

Mode of Inheritance: AD / AR?

Genes

JAG1, mapped to 20p12
NOTCH2, mapped to 1p13-p11

Tumor features

hepatocellular cancer (hepatoma)

Tumor features (possible)

thyroid cancer, papillary
Wilms' tumor (nephroblastoma)

Non-tumor features

bile ducts, paucity of intrahepatic
chin, triangular
embryotoxon posterior
eyes, deeply set
frontal bossing / prominent forehead
hypertelorism
midface, flat/hypoplastic
nose, bulbous
nose, long straight
philtrum, short
pulmonary artery stenosis
vertebral anomalies

Comment

Hallmarks of this disorder are: paucity of intrahepatic bile ducts leading to cholestasis, peripheral pulmonary artery stenosis, vertebral arch defects, poor linear growth, a characteristic facies and embryotoxon posterior in the eye[1]. Hepatocellular cancer has been reported in a number of cases[2-5,8,9], and papillary thyroid cancer[6] and Wilms tumor in one case[7]

Links

Alagille Support Group 18 1 08

References

[1] Deleuze JF, Dhorne-Pollet S, Pollet N, Meunier-Rotival M, Hadchouel M. Alagille syndrome in 1995. Clinical and genetical data. Gastroenterol Clin Biol 1995; 19:587-596.
[2] Kaufman SS, Wood RP, Shaw BW, Jr., Markin RS, Gridelli B, Vanderhoof JA. Hepatocarcinoma in a child with the Alagille syndrome. Am J Dis Child 1987; 141(6):698-700.
[3] Ong E, Williams SM, Anderson JC, Kaplan PA. MR imaging of a hepatoma associated with Alagille syndrome. J Comput Assist Tomogr 1986; 10(6):1047-1049.
[4] Le Bail B, Bioulac Sage P, Arnoux R, Perissat J, Saric J, Balabaud C. Late recurrence of a hepatocellular carcinoma in a patient with incomplete Alagille syndrome. GASTROENTEROLOGY 1990; 99(5):1514-1516.
[5] Kim B, Park SH, Yang HR, Seo JK, Kim WS, Chi JG. Hepatocellular carcinoma occurring in alagille syndrome. Pathology, research and practice 2005; 201(1):55-60.
[6] Kato Z, Asano J, Kato T, Yamaguchi S, Kondo N, Orii T. Thyroid cancer in a case with the Alagille syndrome. Clin Genet 1994; 45:21-24.
[7] Bourdeaut F, Guiochon-Mantel A, Fabre M, Martelli H, Patte C, Porta G, Bernard O, Delattre O, Jacquemin E. Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders. Pediatr Blood Cancer 2008 Apr;50(4):908-11
[8] Tsai S, Gurakar A, Anders R, Lam-Himlin D, Boitnott J, Pawlik TM. Management of large hepatocellular carcinoma in adult patients with Alagille syndrome: a case report and review of literature. Dig Dis Sci. 2010 Nov;55(11):3052-8.
[9] Chiaretti A, Zampino G, Botto L, Polidori G. Alagille syndrome and hepatocarcinoma: a case report. Acta Paediatr. 1992 Nov;81(11):937.