Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare genetic neurologic disease characterized by congenital microcephaly severe early-onset epileptic encephalopathy (manifesting as intractable myoclonic and/or tonic-clonic seizures) permanent neonatal insulin-dependent diabetes mellitus and severe global developmental delay. Muscular hypotonia skeletal abnormalities feeding difficulties and dysmorphic facial features (including narrow forehead anteverted nares small mouth with deep philtrum tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.
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
Newly diagnosed with
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome?
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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.
Genetic Epilepsy Team Australia
Collaboration of research and care
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.