Pontocerebellar Hypoplasia

National Organization for Rare Disorders, Inc.

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.

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