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    A Lag Ille Syndrome

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    Blueash Beh
    Alagille syndrome is an autosomal dominant genetic disorder characterized by abnormalities affecting the liver, heart, eyes, face, and skeleton. Common features include cholestasis, intrahepatic bile duct paucity in the liver, congenital heart defects, characteristic facial features such as a broad forehead and pointed chin, and vertebral and kidney abnormalities. It is caused by mutations in the JAG1 gene which encodes a ligand involved in Notch signaling pathways important for development.

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    A Lag Ille Syndrome

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    Blueash Beh
    50 views2 pages
    Alagille syndrome is an autosomal dominant genetic disorder characterized by abnormalities affecting the liver, heart, eyes, face, and skeleton. Common features include cholestasis, intrahepatic bile duct paucity in the liver, congenital heart defects, characteristic facial features such as a broad forehead and pointed chin, and vertebral and kidney abnormalities. It is caused by mutations in the JAG1 gene which encodes a ligand involved in Notch signaling pathways important for development.

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    Allagile

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    Alagille syndrome is an autosomal dominant genetic disorder characterized by abnormalities affecting the liver, heart, eyes, face, and skeleton. Common features include cholestasis, intrahepatic bile duct paucity in the liver, congenital heart defects, characteristic facial features such as a broad forehead and pointed chin, and vertebral and kidney abnormalities. It is caused by mutations in the JAG1 gene which encodes a ligand involved in Notch signaling pathways important for development.

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    © All Rights Reserved
    Download as PDF, TXT or read online from Scribd
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    50 views2 pages

    A Lag Ille Syndrome

    Uploaded by

    Blueash Beh
    Alagille syndrome is an autosomal dominant genetic disorder characterized by abnormalities affecting the liver, heart, eyes, face, and skeleton. Common features include cholestasis, intrahepatic bile duct paucity in the liver, congenital heart defects, characteristic facial features such as a broad forehead and pointed chin, and vertebral and kidney abnormalities. It is caused by mutations in the JAG1 gene which encodes a ligand involved in Notch signaling pathways important for development.

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    of 2

    Genetic & Dysmorphic Book ELBABA M.A.

    ALAGILLE Syndrome OMIM 2008


    ______________________________________________________________________________________________

    ALAGILLE SYNDROME; ALGS / OMIM2008


    ALAGILLE-WATSON SYNDROME; AWS
    Clinical Synopsis
    INHERITANCE :
    Autosomal dominant
    GROWTH :
    Other
    Failure to thrive
    HEAD AND NECK :
    Face
    Broad forehead
    Triangular face
    Prominent zygomatic arch
    Eyes
    Deep-set eyes
    Posterior embryotoxon
    Anterior chamber anomalies
    Eccentric or ectopic pupils
    Chorioretinal atrophy
    Retinal pigment clumping
    Axenfeld anomaly
    Choroidal folds
    Strabismus
    Myopia
    Anomalous optic disc
    Nose
    Long nose with bulbous tip
    CARDIOVASCULAR :
    Heart
    Peripheral pulmonary artery stenosis
    Atrial septal defect
    Ventricular septal defect
    Coarctation of aorta
    CHEST :
    Ribs, sternum, clavicles, and scapulae
    Rib anomalies
    ABDOMEN :
    ______________________________________________________________________________________________
    Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
    Last update: 31 October 2008
    Genetic & Dysmorphic Book ELBABA M.A.
    ALAGILLE Syndrome OMIM 2008
    ______________________________________________________________________________________________
    Liver
    Cholestasis
    Intrahepatic duct deficiency
    Biliary tract
    Extrahepatic duct involvement
    SKELETAL :
    Spine
    Vertebral anomalies
    Butterfly vertebral arch
    Hemivertebrae
    Limbs
    Short ulnae
    Hands
    Short distal phalanges
    NEUROLOGIC :

    Central nervous system


    Mild mental retardation, occasional
    Learning disability
    Peripheral nervous system
    Absent deep tendon reflexes
    GENITOURINARY :
    Kidneys

    Renal dysplasia
    Renal mesangiolipidosis
    Medullary cystic disease
    NEOPLASIA :
    Hepatocellular carcinoma
    Papillary thyroid carcinoma
    LABORATORY :
    Hypercholesterolemia
    Hypertriglyceridemia
    Elevated transaminases
    Abnormal liver function tests
    MOLECULAR :
    Gene map locus 20p12
    Caused by mutation in the jagged 1 gene (JAG1,
    601920.0001)
    ______________________________________________________________________________________________
    Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
    Last update: 31 October 2008

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