" /> Perlman syndrome - CISMeF





Preferred Label : Perlman syndrome;

ICD-11 definition : Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.;

ICD-11 synonym : Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumour;

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Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

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29/07/2025


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