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    Pontocerebellar Hypoplasia

    Important
    It is possible that the main title of the report Pontocerebellar Hypoplasia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • arginyl-tRNA synthetase 2 (RARS2)
    • cerebellar atrophy with progressive microcephaly, (CLAM)
    • encephalopathy, fatal infantile, with olivopontocerebellar hyperplasia
    • fetal-onset olivopontocerebellar hypoplasia
    • olivopontocerebellar hypoplasia, fetal-onset
    • PCH with optic atrophy
    • pontocerebellar hypoplasia, type 1 (PCH1)
    • pontocerebellar hypoplasia, type 2A (PCH2A)
    • pontocerebellar hypoplasia, type 2B (PCH2B)
    • pontocerebellar hypoplasia, type 2C (PCH2C)
    • pontocerebellar hypoplasia, type 3 (PCH3)
    • pontocerebellar hypoplasia, type 4 (PCH4)
    • pontocerebellar hypoplasia, type 5 (PCH 5)
    • pontocerebellar hypoplasia, type 6 (PCH6)
    • pontocerebellar hypoplasia with anterior horn cell disease
    • pontocerebellar hypoplasia with infantile spinal muscular atrophy
    • pontocerebellar hypoplasia with progressive cerebral atrophy
    • volendam neurodegenerative disease

    Disorder Subdivisions

    • None

    General Discussion

    Pontocerebellar hypoplasias (PCH) are a group of rare heterogeneous conditions characterized by prenatal development of an abnormally small cerebellum and brain stem, which is usually associated with profound psychomotor retardation. Although the clinical features vary widely, pontocerebellar hypoplasias are usually associated with profound intellectual disability and delayed or absent psychomotor milestones. In most cases, the disease is uniformly fatal early in life. Life span has ranged from death in the perinatal period to about 20-25 years of age. Only a few individuals-usually patients with PCH type 2-have survived to the second and third decades of life. At least 6 types of PCH have been described and a few rare variants are now being identified.

    Resources

    Contact A Family
    209-211 City Road
    London, EC1V 1JN
    United Kingdom
    Tel: 02076088700
    Fax: 02076088701
    Tel: 08088083555
    Email: info@cafamily.org.uk
    Internet: http://www.cafamily.org.uk/

    NIH/National Institute of Child Health and Human Development
    31 Center Dr
    Building 31, Room 2A32
    MSC2425
    Bethesda, MD 20892
    Fax: (866)760-5947
    Tel: (800)370-2943
    TDD: (888)320-6942
    Email: NICHDInformationResourceCenter@mail.nih.gov
    Internet: http://www.nichd.nih.gov/

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Fetal Hope Foundation
    9786 South Holland Street
    Littleton, CO 80127
    USA
    Tel: (303)932-0553
    Tel: (877)789-4673
    Email: info@fetalhope.org
    Internet: http://www.fetalhope.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 3/16/2012
    Copyright 2009, 2012 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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