Perlman syndrome

Perlman syndrome is a rare condition that is usually seen at birth. It is known for several key features including an excess of amniotic fluid during pregnancy (polyhydramnios), unusually large size at birth (neonatal macrosomia), and distinctive facial features. Additionally, children with this condition may develop tumors in both kidneys, known as renal hamartomas, which may occur with or without a form of kidney abnormality called nephroblastomatosis. Another noted feature of Perlman syndrome is the enlargement of the clusters of hormone-producing cells in the pancreas (hypertrophy of the islets of Langerhans). These combined characteristics help healthcare providers recognize the condition. The information provided here is based on established definitions and genetic references for Perlman syndrome.

People with Perlman syndrome may show signs such as a large amount of amniotic fluid during pregnancy, larger than average size at birth, and unusual facial features. They may also have kidney tumors (hamartomas) that can occur with or without nephroblastomatosis. In addition, there can be an enlargement of the islets of Langerhans in the pancreas.

Perlman syndrome is linked to changes in the DIS3L2 gene. This genetic factor plays a role in the development of the condition and is important for understanding how these diverse features occur. Research into the genetics of Perlman syndrome continues to improve the understanding of its causes.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.