ALDH18A1-related De Barsy syndrome

Orpha code: 35664OMIM code: 219150

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.

Disease data
Classification

Etiological subtype

Synonyms
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Delta-1-pyrroline 5-carboxylate synthetase deficiency Niedobór syntetazy karboksylanu delta-1-piroliny
Niedobór P5CS
Zespół nerwowo-skórny, typ Bicknella
Neurocutaneous syndrome, Bicknell type
P5CS deficiency
ORPHA code
35664
OMIM code
219150
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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