Perlman syndrome

Term ID

DOID:0060476

Synonyms

• nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
• nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
• renal hamartomas, nephroblastomatosis and fetal gigantism

Definition

A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (3)

References

• GARD:3936
• ICD10CM:Q87.3
• MESH:C536399
• OMIM:267000
• ORDO:2849

Ontology

Human Disease   ( DOID:0060476 )