You are here: Home / Rare Disease Information / Rare Disease Database

Search Rare Diseases

Enter a disease name or synonym to search NORD's database of reports.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

Pontocerebellar Hypoplasia

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Said Omar, MD, FAAP, Professor and Medical Director, Neonatology, Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, and Ayodeji Ajibola, MD, Neonatology, Former NICHD Fellow, Pediatric Scientist Development Program, Department of Microbiology and Molecular Genetics, Michigan State University, for the preparation of this report.

Synonyms of Pontocerebellar Hypoplasia

  • 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

  • No subdivisions found.

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.

Pontocerebellar Hypoplasia Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.

 
Copyright ©2014 NORD - National Organization for Rare Disorders, Inc. All rights reserved.
The following trademarks/registered service marks are owned by NORD: NORD, National Organization for Rare Disorders, the NORD logo, RareConnect. .