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ALDH18A1-related De Barsy syndrome

Disease definition

A rare, genetic, neurometabolic disease characterized by prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance, and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated.

ORPHA:35664

  • Synonym(s):
    • Delta-1-pyrroline 5-carboxylate synthetase deficiency
    • Neurocutaneous syndrome, Bicknell type
    • P5CS deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 219150
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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