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
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Genetic Epilepsy Team Australia
Collaboration of research and care
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
For a list of clinical trials in this disease area, please click here.