Potter syndrome dominant type
Potter Syndrome Dominant Type is a rare genetic disorder characterized by a variety of physical abnormalities. The syndrome is named after Edith Potter, a pathologist who first described the condition in 1946.
Overview[edit | edit source]
Potter Syndrome Dominant Type is a subtype of Potter Syndrome, a group of disorders that affect the development of the kidneys and urinary tract. The dominant type is inherited in an Autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the disorder to each of their children.
Symptoms[edit | edit source]
The symptoms of Potter Syndrome Dominant Type can vary widely between individuals. Common symptoms include Pulmonary hypoplasia (underdeveloped lungs), Oligohydramnios (low amniotic fluid), and Renal agenesis (absence of one or both kidneys). Other possible symptoms include Facial abnormalities, Limb abnormalities, and Eye abnormalities.
Diagnosis[edit | edit source]
Diagnosis of Potter Syndrome Dominant Type is typically made through a combination of Genetic testing, Ultrasound imaging, and clinical examination. Genetic testing can identify mutations in the genes associated with the disorder, while ultrasound imaging can reveal physical abnormalities in the kidneys and urinary tract.
Treatment[edit | edit source]
There is currently no cure for Potter Syndrome Dominant Type. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include Dialysis or Kidney transplantation for individuals with kidney failure, and Respiratory therapy for those with lung problems.
Prognosis[edit | edit source]
The prognosis for individuals with Potter Syndrome Dominant Type can vary depending on the severity of symptoms. Some individuals may live into adulthood with appropriate management, while others may experience life-threatening complications in infancy or early childhood.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Potter syndrome dominant type is a rare disease.
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Contributors: Prab R. Tumpati, MD
