Perlman syndrome

Orpha code: 2849OMIM code: 267000

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.

Disease data
Classification

Malformation syndrome

Synonyms
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
Nefroblastomatoza - wodobrzusze płodu - makrosomia - guz Wilmsa
ORPHA code
2849
OMIM code
267000
ICD10 code
Q87.3
ICD11 code
2C90.Y

No additional description.

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