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 ?
Spinner, "Clinical and molecular genetics of Alagille syndrome," Current Opinion in Pediatrics, vol.
Children with Alagille syndrome usually suffer a progressive loss of the bile ducts within the liver over the first year of life and narrowing of bile ducts outside the liver.
Alagille syndrome, or ALGS, is a rare genetic disorder that can affect the liver, heart, skeleton, eyes and kidneys.
These causes include biliary atresia (existing cases), intestinal failure associated liver disease, neonatal hepatitis, giant cell hepatitis, paucity of biliary ducts or Alagille syndrome, liver failure from type 1 tyrosinemia, or of uncertain etiology and intrahepatic hemangioma.
Children with Alagille syndrome usually have a liver disease characterized by a progressive loss of the bile ducts within the liver over the first year of life and narrowing of bile ducts outside the liver.
Furthermore, protease inhibitor typing, chest radiograph, and abdominal ultrasound revealed no abnormalities, arguing against other liver-associated causes such as [[alpha].sub.1]-antitrypsin disease, Alagille syndrome, and choledochal cyst.
It was reported on Friday that the company has received orphan designation for LUM001 in four rare cholestatic liver diseases, which are Alagille syndrome, progressive familial intrahepatic cholestasis, primary biliary cirrhosis, and primary sclerosing cholangitis.
Alagille syndrome, and progressive familial intrahepatic cholestasis (PFIC) syndromes
Dangerously underweight, Leo's liver was badly damaged by Alagille Syndrome - a condition so rare that just one in every 100,000 babies are born with it.
Congenital coarctation has been thought to be due to incomplete fusion or overfusion of embryonic dorsal aortas during 4th week of gestation.6-8 Another hypothesis implicates intra-uterine injury or infection, particularly rubella as the risk factor that precipitates aortic hypoplasia.2 Acquired MAS is associated with neurofibromatosis, William's syndrome, Alagille syndrome, fibromuscular dysplasia, retroperitoneal fibrosis (Ormond disease), mucopolysaccharidosis, foetal alcohol syndrome and giant cell arteritides including temporal (cranial) and Takayasu arteritis.1,9