MeSH Browser

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
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 MeSH Supplementary Concept Data 2024