National Organization for Rare Disorders, Inc.
- 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
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.
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Genetic and Rare Diseases (GARD) Information Center
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Fetal Hope Foundation
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Last Updated: 3/16/2012
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