Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl