Alagille syndrome


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Alagille syndrome

 [ah-lah-zhēl´]
a syndrome caused by the stoppage or suppression of bile flow because of absence or paucity of intrahepatic bile ducts. Besides causing neonatal jaundice, it affects many body systems and is associated with pulmonary valvular stenosis, peripheral pulmonary stenosis, deep-set eyes with anterior chamber abnormalities, and characteristic facial features including a broad forehead, pointed mandible, and bulbous nasal tip. rickets and other bony deformities are common, especially in the vertebral column. Infants often show failure to thrive and older children may have difficulty in school.

A·la·gille syn·drome

(ah-lah-zhēl'), [MIM 118450]
an autosomal dominant syndrome that becomes apparent in childhood and is associated with jaundice resulting from a paucity of intrahepatic bile ducts; characteristics include a narrow face and pointed chin, broad forehead, long, straight nose, deep-set eyes, posterior embryotoxon in the eye, cardiovascular abnormalities, vertebral defects, and nephropathy.

Alagille syndrome

A rare autosomal dominant multisystem disease of early (neonatal) onset which causes dysmorphia and is characterised by intrahepatic cholestasis due to hypoplasia of the interlobular biliary duct.
Clinical findings Stunted growth, neonatal jaundice, hepatomegaly, fat deposits in skin, facial, heart, eye, vertebrae, kidney defects, characteristic faces, cardiac malformations, peripheral pulmonary stenosis with pulmonary hypertension, ophthalmologic defects (typically the anterior chamber with posterior embryotoxon), skeletal defects (e.g., butterfly vertebrae).

A·la·gille syn·drome

(ah-lah-zhēl' sin'drōm)
An autosomal dominant syndrome that becomes apparent in childhood and is associated with jaundice due to a paucity of intrahepatic bile ducts; characteristics include a narrow face and pointed chin, broad forehead, long, straight nose, deep-set eyes, posterior embryotoxon in the eye, cardiovascular abnormalities, vertebral defects, and nephropathy.

Alagille,

Daniel B., French pediatrician, 1925–.
Alagille syndrome - Synonym(s): syndromatic paucity of interlobular bile ducts
References in periodicals archive ?
Inhibition of Jagged-mediated Notch signaling disrupts zebrafish biliary development and generates multi-organ defects compatible with an Alagille syndrome phenocopy.
Cranial neural crest ablation of Jagged1 recapitulates the craniofacial phenotype of Alagille syndrome patients.
Alagille syndrome is a genetic condition (associated with the Notch signaling pathway and Jagged1 gone) that causes narrowed and malformed bile ducts in the liver.
A diagnosis of Alagille syndrome usually depends upon finding several different components of the syndrome in an individual.
Treatment of Alagille syndrome focuses on trying to increase the flow of bile from the liver, maintaining the child's normal growth and development pattern, and correcting any of the nutritional deficiencies that often develop.
Sometimes surgery is necessary during infancy to help establish the diagnosis of Alagille Syndrome by direct examination of the bile duct system.
Alagille syndrome is generally inherited only from one parent and there is a 50 per cent chance that each child will develop the syndrome.
Treatment of Alagille syndrome is based on trying to increase the flow of bile from the liver, maintain normal growth and development and prevent or corre ct any of the specific nutritional deficiencies that often develop.
The overall life expectancy for children with Alagille syndrome is unknown, but depends on several factors: the severity of scarring in the liver, whether heart or lung problems develop because of the narrowing in the pulmonary artery, and the presence of infections or other problems related to poor nutrition.
Catherine Arkley, chief executive of Children's Liver Disease Foundation, said: "Children affected by Alagille syndrome often have short stature.