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    Blueash Beh
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    The document summarizes the CHARGE association, a genetic disorder caused by mutations in the CHD7 gene. It is characterized by three or more major features including colobomas, heart defects, choanal atresia, retarded growth, genital abnormalities, and ear abnormalities/deafness. Those affected experience a variety of signs including microcephaly, facial abnormalities, ear abnormalities leading to deafness, eye colobomas, cleft palate, heart defects, rib anomalies, gastrointestinal issues, genitourinary abnormalities, and neurological issues such as developmental delays. The disorder is inherited in an autosomal dominant pattern but can also occur spontaneously through isolated cases.

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    CHARGE syndrome

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    The document summarizes the CHARGE association, a genetic disorder caused by mutations in the CHD7 gene. It is characterized by three or more major features including colobomas, heart defects, choanal atresia, retarded growth, genital abnormalities, and ear abnormalities/deafness. Those affected experience a variety of signs including microcephaly, facial abnormalities, ear abnormalities leading to deafness, eye colobomas, cleft palate, heart defects, rib anomalies, gastrointestinal issues, genitourinary abnormalities, and neurological issues such as developmental delays. The disorder is inherited in an autosomal dominant pattern but can also occur spontaneously through isolated cases.

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    © All Rights Reserved
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    Download as pdf or txt
    102 views2 pages

    Charge Association

    Uploaded by

    Blueash Beh
    The document summarizes the CHARGE association, a genetic disorder caused by mutations in the CHD7 gene. It is characterized by three or more major features including colobomas, heart defects, choanal atresia, retarded growth, genital abnormalities, and ear abnormalities/deafness. Those affected experience a variety of signs including microcephaly, facial abnormalities, ear abnormalities leading to deafness, eye colobomas, cleft palate, heart defects, rib anomalies, gastrointestinal issues, genitourinary abnormalities, and neurological issues such as developmental delays. The disorder is inherited in an autosomal dominant pattern but can also occur spontaneously through isolated cases.

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    © All Rights Reserved
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    of 2

    Genetic & Dysmorphic Book ELBABA M.A.

    CHARGE Association OMIM 2008


    ______________________________________________________________________________________________

    CHARGE Association / OMIM2008


    HALL-HITTNER SYNDROME; HHS

    Clinical Synopsis
    INHERITANCE :
    Autosomal dominant.Isolated cases. Caused by
    mutation in the chromodomain helicase DNA-binding
    protein 7 gene (CHD7, 608892.0001)
    GROWTH :
    Postnatal growth retardation
    HEAD AND NECK :
    Head
    Microcephaly
    Face
    Square face
    Malar flattening
    Micrognathia
    Facial
    asymmetry
    Ears
    Small ears
    Lop ears
    Deafness (sensorineural or mixed sensorineural and conductive)
    Mondini defect
    Eyes
    Colobomas (iris, choroid, retina, disk, and optic nerve)
    Anophthalmia
    Ptosis
    Hypertelorism
    Down-slanting palpebral fissures
    Nose
    Posterior choanal atresia (membranous and/or bony)
    Mouth
    Cleft palate
    Cleft lip
    CARDIOVASCULAR :
    Heart
    Tetralogy of Fallot
    ______________________________________________________________________________________________
    Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
    Last update: 25 October 2008
    Genetic & Dysmorphic Book ELBABA M.A.
    CHARGE Association OMIM 2008
    ______________________________________________________________________________________________
    Atrial septal defect
    Double-outlet right ventricle
    CHEST :
    Ribs, sternum, clavicles, and scapulae
    Rib anomalies
    ABDOMEN :
    External features
    Umbilical hernia
    Omphalocele
    Gastrointestinal
    Tracheoesophageal fistula
    Anal atresia
    Anal stenosis
    Poor feeding
    GENITOURINARY :
    Delayed pubertal development
    External genitalia, male
    Micropenis
    External genitalia, female
    Hypoplastic labia
    Internal genitalia, male
    Cryptorchidism
    Kidneys
    Horseshoe kidney
    Hydronephrosis
    NEUROLOGIC :
    Central nervous system
    Mental retardation
    Peripheral nervous system
    Facial palsy
    Dysphagia
    ENDOCRINE FEATURES :
    Growth hormone deficiency
    Parathyroid hypoplasia
    MISCELLANEOUS :
    CHARGE acronym (Coloboma, Heart defect, Atresia choanae, Retarded
    growth and development, Genital hypoplasia, Ear anomalies/deafness)

    ______________________________________________________________________________________________
    Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
    Last update: 25 October 2008

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