Enamel-renal syndrome is a rare genetic disorder characterized by the absence of enamel on the teeth and kidney abnormalities. It is caused by mutations in the WDR73 gene. Symptoms may include enamel hypoplasia, kidney cysts, and kidney failure. Treatment typically involves dental care and monitoring of kidney function.

The symptoms of Enamel-Renal Syndrome (ERS) vary from person to person, but may include:

-Abnormal enamel development on the teeth
-Kidney abnormalities, including cysts, scarring, and/or malformations
-High blood pressure
-Abnormalities of the urinary tract
-Abnormalities of the heart and/or blood vessels
-Growth retardation
-Developmental delays
-Facial abnormalities, including a broad forehead, low-set ears, and/or a small lower jaw
-Hearing loss
-Cleft palate
-Abnormalities of the eyes, including cataracts and/or glaucoma
-Abnormalities of the bones, including Scoliosis and/or joint contractures

Enamel-renal syndrome is a rare genetic disorder caused by mutations in the WDR73 gene. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder.

The primary treatment for Enamel-renal syndrome is supportive care. This includes regular monitoring of kidney function, blood pressure, and electrolyte levels. Other treatments may include medications to control high blood pressure, antibiotics to treat infections, and dietary changes to reduce the amount of phosphorus in the diet. Dialysis may be necessary in some cases. Surgery may be necessary to correct any structural abnormalities in the kidneys.

The primary risk factor for Enamel-Renal Syndrome is having a family history of the disorder. Other risk factors include being of Ashkenazi Jewish descent, having a mutation in the FAM20A gene, and having a mutation in the FAM20C gene.

At this time, there is no cure for Enamel-Renal Syndrome. However, there are medications that can help manage the symptoms. These include medications to control high blood pressure, reduce swelling, and treat kidney problems. Additionally, a low-salt diet and regular exercise can help reduce the risk of complications.