Fatty acyl-CoA reductase 1 deficiency

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Fatty acyl-CoA reductase 1 deficiency

Synonyms: FAR1 deficiency | PFCRD | Peroxisomal fatty acyl-CoA reductase 1 disorder

A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts early-onset epilepsy microcephaly global developmental delay growth retardation and short stature and spastic quadriparesis. Dysmorphic facial features may be present including high-arched eyebrows flattened nasal root hypertelorism and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy white matter abnormalities and Dandy-Walker malformation have been described on brain imaging.

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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Fatty acyl-CoA reductase 1 deficiency?

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Advocacy Organizations

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.

Clinical Trials

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