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 April 2024
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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
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
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.