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

单词	alagille syndrome
释义	DictionarySeesyndrome Alagille syndrome 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 AcronymsSeeALGS
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