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.