Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

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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 Data version December 2023

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Advocacy Organizations

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).

Clinical Trials

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