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 ?
Symptoms of Alagille syndrome are jaundice; pale, loose stools; and poor growth within the first three months of life.
More than 90 per cent of children with Alagille syndrome have an unusual abnormality of the eyes.
Doctors explained Alagille Syndrome was hereditary and Jo's elder son, Dylan, was lucky to have escaped it.
Lumena's lead candidate, LUM001, has been studied in more than 1,400 patients in 12 different clinical studies and is currently being evaluated in Phase II studies in patients with Alagille syndrome and primary biliary cirrhosis.
LUM001 is being developed as a possible therapy for a number of cholestatic liver diseases including, PBC, Alagille syndrome, progressive familial intrahepatic cholestasis and primary sclerosing cholangitis, that result in impaired bile acid flow and retention of bile acids in the liver, leading to progressive liver damage and, ultimately, liver failure.
Lumena is currently evaluating LUM001 in Phase II studies in children with Alagille syndrome and adults with primary biliary cirrhosis.
Symptoms of Alagille syndrome include intense itching and sleep disruption on an ongoing basis, which is extremely problematic for the whole family when a child is suffering," said Alastair Baker, M.
Company Pursuing Orphan Path to Development in Alagille Syndrome, Progressive Familial Intrahepatic Cholestasis, Primary Biliary Cirrhosis and Primary Sclerosing Cholangitis
The company also plans to initiate Phase II studies of LUM001 in children with Alagille Syndrome (ALGS) and Progressive Familial Intrahepatic Cholestasis (PFIC), rare congenital disorders that also present with cholestatic liver disease.
He needed a transplant because he was born with Alagille syndrome, a rare, hereditary disorder characterized by a reduced number of bile ducts in the liver.
PHILADELPHIA, July 31 /PRNewswire/ -- In a finding that may have broader implications for understanding kidney disorders, genetics researchers at The Children's Hospital of Philadelphia have identified a second gene that gives rise to Alagille syndrome, a genetic developmental disease that affects multiple organs.