| Metadata | |
|---|---|
| ID | DOID:0060476 |
| Name | Perlman syndrome |
| 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. https://en.wikipedia.org/wiki/Perlman_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/18780370, https://www.ncbi.nlm.nih.gov/pubmed/22306653 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor [EXACT] nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor [EXACT] renal hamartomas, nephroblastomatosis and fetal gigantism [EXACT] |
| Parent Relationships |
is_a syndrome |