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Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Posterior embryotoxon

A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.

Total: 14

(per page)

PMID (PMCID)
30046498 (6036836)	OTHER
	A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.
	Reyes-de la Rosa ADP, Varela-Fascinetto G, Garcia-Delgado C, Vazquez-Martinez ER, Valencia-Mayoral P, Cerbon M, Moran-Barroso VF. Case Rep Genet. 2018;2018:1369413.
	Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features.
29187043	MALE	Infant, Newborn
	An Atypical Presentation of Alagille Syndrome.
	Wu KY, Treece AL, Russo PA, Wen JW. Pediatr Dev Pathol. 2018;21(1):79-83.
	This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.
29187043	MALE	Infant, Newborn
	An Atypical Presentation of Alagille Syndrome.
	Wu KY, Treece AL, Russo PA, Wen JW. Pediatr Dev Pathol. 2018;21(1):79-83.
	This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.
27906097 (5134282)	MALE	Child
	A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report.
	Pati GK, Singh A, Nath P, Narayan J, Padhi PK, Parida PK, Pattnaik K, Panda C, Singh SP. J Med Case Rep. 2016;10(1):342.
	Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis.
26463753	FEMALE	Infant, Newborn
	Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors.
	Izumi K, Hayashi D, Grochowski CM, Kubota N, Nishi E, Arakawa M, Hiroma T, Hatata T, Ogiso Y, Nakamura T, Falsey AM, Hidaka E, Spinner NB. Am J Med Genet A. 2016;170A(2):471-475.
	Alagille syndrome is a multisystem developmental disorder characterized by bile duct paucity, congenital heart disease, vertebral anomalies, posterior embryotoxon, and characteristic facial features.
15731932	FEMALE
	A case of Takayasu disease with findings of incomplete Alagille syndrome.
	Kavukcu S, Demir K, Soylu A, Anal O, Saatci O, Goktay Y. Rheumatol Int. 2005;25(7):555-7.
	A 16-year-old girl being followed up for Takayasu arteritis for the last 3 years was also found to have Alagille syndrome upon findings of atypical facies, posterior embryotoxon, high-pitched voice, osteopenia and hypogonadism.
12420920	FEMALE
	Alagille syndrome.
	Shendge H, Tullu MS, Shenoy A, Chaturvedi R, Kamat JR, Khare M, Joshi A. Indian J Pediatr. 2002;69(9):825-7.
	Syndromic paucity of bile ducts or "Alagille syndrome" is characterized by peculiar facies, chronic cholestasis, posterior embryotoxon, butterfly-like vertebral arch defects and peripheral pulmonary artery hypoplasia or stenosis.
10808707	FEMALE	Infant
	A case report: Alagille syndrome.
	Ukarapol N, Wongsawasdi L, Sittiwangkul R. J Med Assoc Thai. 2000;83(4):451-4.
	Alagille syndrome consists of 5 major features comprising paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects and peripheral pulmonic stenosis.
7825452	FEMALE	Child
	Alagille syndrome with a spontaneous appearance of the interlobular bile ducts.
	Fujisawa T, Kage M, Ushijima K, Kimura A, Ono E, Kato H. Acta Paediatr Jpn. 1994;36(5):506-9.
	We report a rare case of a 10 year old girl diagnosed as having Alagille syndrome on the basis of a characteristic face, posterior embryotoxon, cholestasis, peripheral pulmonary artery stenosis and the absence of interlobular bile ducts in a liver biopsy at 1.5 years of age.
8259273	MIXED_SAMPLE	Infant, Newborn
	Ocular anomalies in the alagille syndrome (arteriohepatic dysplasia).
	Brodsky MC, Cunniff C. Ophthalmology. 1993;100(12):1767-74.
	The Alagille syndrome (arteriohepatic dysplasia) is a well-recognized multiple malformation syndrome consisting of a paucity of intrahepatic bile bile ducts, peripheral pulmonary artery hypoplasia with variable cardiac abnormalities, cholestatic facies, butterfly-like vertebral arch defects, and variable ocular anomalies, most commonly posterior embryotoxon and pigmentary retinopathy.
8259273	MIXED_SAMPLE	Infant, Newborn
	Ocular anomalies in the alagille syndrome (arteriohepatic dysplasia).
	Brodsky MC, Cunniff C. Ophthalmology. 1993;100(12):1767-74.
	In the setting of neonatal cholestasis, the findings of microcornea, posterior embryotoxon, mosaic iris stromal hypoplasia, regional peripapillary depigmentation, congenital macular dystrophy, and anomalous optic discs should suggest the diagnosis of Alagille syndrome.
8259273	MIXED_SAMPLE	Infant, Newborn
	Ocular anomalies in the alagille syndrome (arteriohepatic dysplasia).
	Brodsky MC, Cunniff C. Ophthalmology. 1993;100(12):1767-74.
	The Alagille syndrome (arteriohepatic dysplasia) is a well-recognized multiple malformation syndrome consisting of a paucity of intrahepatic bile bile ducts, peripheral pulmonary artery hypoplasia with variable cardiac abnormalities, cholestatic facies, butterfly-like vertebral arch defects, and variable ocular anomalies, most commonly posterior embryotoxon and pigmentary retinopathy.
1779119	MALE	Adult
	[Ocular anomalies in Alagille's syndrome].
	Ricci B, Lepore D, Iossa M, Santo A, Chiaretti A. J Fr Ophtalmol. 1991;14(8-9):481-5.
	The presence of posterior embryotoxon in all the cases of Alagille syndrome confirms that this sign is a hallmark of ADH, also in its benign expression.
6806523	MIXED_SAMPLE	Child
	[Clinical picture and inheritance of ocular symptoms in arteriohepatic dysplasia (author's transl)].
	Mayer U, Grosse KP. Klin Monbl Augenheilkd. 1982;180(4):290-3.
	Systematic examination of four children suffering from arteriohepatic dysplasia and of members of their families revealed with diminishing frequency, the following symptoms: icterus episcleralis, posterior embryotoxon, gray-yellowish precipitations in the retina, microphthalmos, corectopia with rudimentary coloboma of the iris, xanthomatosis retinae and atrophy of the optic nerve.