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Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor MeSH Supplementary Concept Data 2025


MeSH Supplementary
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Unique ID
C536399
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536399
Entry Term(s)
Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor
Perlman Syndrome
Renal hamartomas, nephroblastomatosis, and fetal gigantism
Registry Numbers
0
Heading Mapped to
*Fetal Macrosomia
*Wilms Tumor
Frequency
20
Note
An autosomal recessive congenital overgrowth syndrome with similarities to BECKWITH-WIEDEMANN SYNDROME (OMIM: 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and HYDRONEPHROSIS), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. Mutations in the DIS3L2 gene have been identified. OMIM: 267000
Date of Entry
2010/08/25
Revision Date
2015/09/27
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor Preferred
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