Potter disease type 1

Potter's Syndrome Type 1 or Potter Sequence Type 1 is a rare congenital disorder characterized by a series of typical physical abnormalities. The condition is named after Edith Potter, a pathologist who first described the syndrome in 1946.

Etiology

Potter's Syndrome Type 1 is caused by bilateral renal agenesis, a condition where both kidneys fail to develop during gestation. This leads to a lack of amniotic fluid, known as oligohydramnios, which in turn causes a series of developmental abnormalities.

Clinical Features

The most characteristic features of Potter's Syndrome Type 1 include pulmonary hypoplasia, or underdeveloped lungs, and distinctive facial features such as wide-set eyes, low-set ears, and a broad, flat nose. Other common features include limb deformities and, in males, undescended testes.

Diagnosis

Diagnosis of Potter's Syndrome Type 1 is typically made prenatally, through ultrasound examination. The absence of kidneys and bladder, along with the presence of oligohydramnios, are key indicators of the condition.

Prognosis

The prognosis for Potter's Syndrome Type 1 is generally poor, as the condition is typically fatal shortly after birth due to respiratory failure. However, with advances in neonatal care, some infants with the condition may survive for a period of time.

Treatment

There is currently no cure for Potter's Syndrome Type 1. Treatment is supportive and focuses on managing symptoms. This may include interventions such as mechanical ventilation for respiratory distress and dialysis for kidney failure.

See Also

• Potter's Syndrome
• Bilateral Renal Agenesis
• Oligohydramnios

NIH genetic and rare disease info

• NIH info on Potter disease type 1

Potter disease type 1 is a rare disease.