Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability associated with hypertonia spasticity clonus and seizures with brain imaging revealing severe cerebral and cerebellar atrophy and poor myelination.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.