Definition
Perlman syndrome (OMIM #267000) is a rare, recessive macrosomia syndrome characterized by hydramnios, renal dysplasia, and characteristic facial dysmorphia.
Key Data
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| Synonyms | Nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor |
| Gene | DIS3L2 |
| Gene product | DIS3L2 |
| Function | Role in the degradation of miRNA |
| Heredity | Autosomal recessive |
| Prevalence | Extremely rare |
| Genotype-phenotype correlation | Unknown |
| Penetrance | Unknown |
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Diagnosis
Diagnosis
The diagnosis of “Perlman syndrome” is made clinically and confirmed by the detection of a DIS3L2 mutation by gene analysis.
Differential Diagnoses
Clinical Presentation
Clinical Presentation
Characteristic features are polyhydramnios, macrosomia, characteristic facial features, renal dysplasia, nephroblastomatosis, and multiple congenital anomalies. More than 50% of those affected die of complications during the neonatal period, such as kidney failure, hypoxia, and pulmonary hypoplasia. The kidneys exhibit nephroblastomatosis in 75% of the cases. A developmental delay is common, and most of those who survive develop nephroblastomas, often on both sides.
Therapeutic Considerations
The treatment should be administered by a multidisciplinary team.
Surveillance Recommendations
Surveillance Recommendations
An abdominal and renal ultrasound every 3 months until the age of 7 due to the increase risk of Wilms tumors
Additional Information
Open Clinical Trials / Registries
Support Groups
Unfortunately, we are as yet unaware of any existing support groups for patients with Perlman syndrome. We will add new information as it becomes available.
