Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C536399
Heading Mapped to:
Entry Terms:
- Renal hamartomas, nephroblastomatosis, and fetal gigantism
- Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor
- Perlman Syndrome