Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

A rare genetic central nervous system malformation syndrome characterized by congenital progressive microcephaly neonatal to infancy-onset of severe intractable seizures and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes variable dysmorphic facial features ophthalmological signs (cortical visual impairment nystagmus eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.

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 March 2024

Newly diagnosed with
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.