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Fatty acyl-CoA reductase 1 deficiency

Disease definition

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.

ORPHA:438178

Classification level: Disorder
  • Synonym(s):
    • FAR1 deficiency
    • PFCRD
    • Peroxisomal fatty acyl-CoA reductase 1 disorder
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: E71.3
  • OMIM: 616154
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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