Nancy B Spinner, PhD, et al., GENE Clinics, July 2, 2007
[for Professionals mainly]
Alagille syndrome is characterized by involvement of the liver and heart that can be life threatening and by skeletal, ophthalmological, and facial changes
useful in diagnosis
typically presents in the first three months as cholestasis, jaundice, pruritis paucity of bile ducts
some patients develop liver failure
Peripheral and branch pulmonic stenosis (67% of patients) and tetralogy of Fallot (7-16%). Posterior embryotoxon (prominent Schwalbe's ring) of the eye and butterfly vertebrae do not cause symptoms
... Microdeletion of 20p12, including the entire JAG1 gene, in approximately 5-7% of cases
Inherited in an autosomal dominant manner. Approximately 50-60% of cases result from a de novo mutation. If the parents of a proband do not have clinical features of Alagille syndrome, sibs of the proband are at low, but slightly increased risk due to germline mosaicism
Prenatal testing is possible
Clinical Finding, % of Patients:
Bile duct paucity, 85%
Chronic cholestasis, 96%
Cardiac murmur, 97%
Eye findings, 78%
Vertebral anomalies, 51%
Characteristic facies, 96%
Renal disease, 40%
Pancreatic insufficiency, 41%
Growth retardation, 87%
Mental retardation, 2%
Developmental delay, 16%
... Prominent forehead, deep-set eyes with moderate hypertelorism, pointed chin and saddle or straight nose with a bulbous tip. These features give the face the appearance of an inverted triangle
Alagille syndrome should be considered in any newborn with a direct hyperbilirubinemia and congenital heart disease. Over 100 specific causes of neonatal cholestasis exist.
Victor A. McKusick, OMIM, Johns Hopkins University, August 16, 2006
[for Professionals mainly]
Alternative titles; symbols
ALAGILLE - WATSON SYNDROME; AWS
CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS
ARTERIOHEPATIC DYSPLASIA; AHD
SYNDROMATIC HEPATIC DUCTULAR HYPOPLASIA
Gene Maps Locus: 20p12
... In addition to neonatal jaundice, features of this syndrome include: in the eye, posterior embryotoxon and retinal pigmentary changes; in the heart, pulmonic valvular stenosis as well as peripheral arterial stenosis; in the bones, abnormal vertebrae ('butterfly' vertebrae) and decrease in interpediculate distance in the lumbar spine; in the nervous system, absent deep tendon reflexes and poor school performance; in the facies, broad forehead, pointed mandible and bulbous tip of the nose and in the fingers, varying degrees of foreshortening. Few intrahepatic bile ducts are demonstrable by histology of the liver ...
American Liver Foundation, March 14, 2007
Alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children. However, other organ systems distinguishes Alagille syndrome from other liver and bile duct diseases in infants
Progressive loss of the bile ducts within the liver over
Narrowing of bile ducts outside the liver
Symptoms of the illness are jaundice, pale, loose stools and poor growth within the first three months
Other features include abnormalities in the cardiovascular system, the spinal column, the eye and the kidneys. Narrowing of the blood vessel connecting the heart to the lungs (pulmonary artery) leads to extra heart sounds but rarely problems in heart function
More than 90 percent of children with Alagille Syndrome have an unusual abnormality of the eyes. An extra, circular line of the surface of the eye requires specialized eye examination to detect and does not lead to any disturbances in vision. In addition, some children have various abnormalities in their kidneys that may lead to minor changes in kidney function ...
The Alagille Syndrome Alliance (USA)
Alagille Syndrome Alliance
The Alagille Syndrome Alliance is a national support network
The purpose of the Alagille Syndrome Alliance is: To serve as the main networking resource and source of information for people with Alagille Syndrome, their families, friends, and health care providers.
Anestesia en la colestasis intrahepática. Síndrome de Alagille
J. Longás Valién et al., Rev. Esp. Anestesiol. Reanim. 2005; 52: 295-298
Paciente de 42 años, diagnosticada de Síndrome de
Alagille en el primer mes de vida. Ingresa en el Servicio
de Cirugía General con diagnóstico de hepatocarcinoma
de lóbulo derecho, para la realización de hepatectomía
El Síndrome de Alagille, también conocido como Síndrome
de escasez de conductos biliares, es una enfermedad
genética extremadamente rara, de afectación
La disfunción hepática y cardíaca será fundamental
para la evolución y pronóstico de la enfermedad. Un
estudio preoperatorio exhaustivo de la función hepática,
cardiológico, hematológica y ósea se antoja fundamental
para el manejo de estos pacientes.
En el presente trabajo se revisan los principales puntos
de la actuación anestésica en los pacientes portadores
de este síndrome ...
Síndrome de Alagille. Colestasis. Cardiopatía ...
I.B.I.S. Birth Defects, 2005
A fact sheet for specialists in Ukrainian.
Main diagnostic criteria ... Clinical features ... Differential diagnosis ... Diagnostic examinations ... Prenatal diagnosis ... Treatment and care ... Complications ... Prognosis ...
Last Updated: 2008/3/6