Pontocerebellar hypoplasia type 8

Orpha code: 324569OMIM code: 614961

Definition

Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the <i>CHMP1A</i> gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

Disease data
Classification

Malformation syndrome

Synonyms
PCH8
Hipoplazja mostowo-móżdżkowa z powodu mutacji CHMP1A
PCH8
Pontocerebellar hypoplasia due to CHMP1A mutation
ORPHA code
324569
OMIM code
614961
ICD10 code
Q04.3
ICD11 code
-

No additional description.

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