Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Synonyms: Asparagine synthetase deficiency
A rare genetic neurometabolic disorder characterized by severe progressive microcephaly severe to profound global development delay intellectual disability seizures (typically tonic and/or myoclonic and frequently intractable) hyperekplexia and axial hypotonia with appendicular spasticity as well as hyperreflexia dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay pons and/or cerebellar hypoplasia simplified gyral pattern and delayed myelination). Cortical blindness feeding difficulties and respiratory insufficiency 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 December 2023
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Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy 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.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
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
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