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 March 2024

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Fatty acyl-CoA reductase 1 deficiency?

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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

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