Perlman syndrome
ORPHA:2849· ICD-10 Q87.3
Definition
A rare overgrowth syndrome characterized by polyhydramnios, pre- and postnatal macrosomia, muscular hypotonia, renal anomalies, organomegaly, abdominal distension, cryptorchidism, typical facial dysmorphism, neurodevelopmental delay and high neonatal mortality. Individuals surviving infancy show a high risk of developing Wilms tumor.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal