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.

View Full Report

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.

Organizations related to Pontocerebellar Hypoplasia

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.

The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.