Perlman syndrome
| Perlman syndrome | |
|---|---|
| Other names | Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome |
| Specialty | Medical genetics, pediatric oncology |
| Symptoms | Overgrowth, kidney dysplasia, facial dysmorphisms |
| Complications | Wilms' tumor |
| Usual onset | Prenatal or at birth |
| Duration | Lifelong |
| Causes | DIS3L2 mutation |
| Differential diagnosis | Beckwith–Wiedemann syndrome, Simpson–Golabi–Behmel syndrome |
| Prognosis | High neonatal mortality |
| Frequency | 30 reported cases |
| Named after | Max Perlman |
Perlman syndrome (PS), also known as nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome, is a rare overgrowth syndrome caused by autosomal recessive mutations in the DIS3L2 gene. PS is characterized by macrocephaly, neonatal macrosomia, nephromegaly, renal dysplasia, dysmorphic facial features, and increased risk for Wilms' tumor. The syndrome is associated with high neonatal mortality.