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  • Hutchinson-Gilford Progeria Syndrome Hgps /: OMIM2008

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    Blueash Beh
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    Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic condition characterized by rapid, premature aging. It is caused by a mutation in the LMNA gene located on chromosome 1q21.2. Children with HGPS experience severe growth retardation, loss of body fat and hair, aged appearance of skin with wrinkles, joint stiffness, hip dislocation, and cardiovascular problems like heart disease. Without treatment, children with HGPS typically die of heart attack or stroke at an average age of 13 years.

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    Progeria Syndrome

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    Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic condition characterized by rapid, premature aging. It is caused by a mutation in the LMNA gene located on chromosome 1q21.2. Children with HGPS experience severe growth retardation, loss of body fat and hair, aged appearance of skin with wrinkles, joint stiffness, hip dislocation, and cardiovascular problems like heart disease. Without treatment, children with HGPS typically die of heart attack or stroke at an average age of 13 years.

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    9 Ansichten1 Seite

    Hutchinson-Gilford Progeria Syndrome Hgps /: OMIM2008

    Hochgeladen von

    Blueash Beh
    Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic condition characterized by rapid, premature aging. It is caused by a mutation in the LMNA gene located on chromosome 1q21.2. Children with HGPS experience severe growth retardation, loss of body fat and hair, aged appearance of skin with wrinkles, joint stiffness, hip dislocation, and cardiovascular problems like heart disease. Without treatment, children with HGPS typically die of heart attack or stroke at an average age of 13 years.

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    Genetic & Dysmorphic Book ELBABA M.A.

    PROGERIA Syndrome OMIM 2008


    ______________________________________________________________________________________________

    HUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS /


    OMIM2008
    Clinical Synopsis
    INHERITANCE :
    Autosomal dominant
    GROWTH :
    Other
    Postnatal onset growth retardation
    HEAD AND NECK :
    Face
    Midface hypoplasia
    Micrognathia
    CARDIOVASCULAR :
    Cardiac
    Premature atherosclerosis
    Premature coronary artery disease
    Angina pectoris
    Myocardial infarction
    Congestive heart failure
    SKELETAL :
    Generalized osteoporosis with pathologic
    fractures
    SKIN, NAILS, HAIR :
    Skin: Absence of subcutaneous fat
    Hair: Alopecia
    MISCELLANEOUS :
    Probably autosomal dominant with rare instances of affected
    sibs due to germinal mosaicism
    Premature aging
    Median life expectancy, 13.4 years
    Paternal age effect

    MOLECULAR BASIS

    Gene map locus 1q21.2


    Caused by mutation in the lamin A/C gene (LMNA,
    150330.0022)
    ______________________________________________________________________________________________
    Welcome to feedback and comment on email: mostafaelbaba@hotmail.com
    Last update: 5 November 2008

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