Information on the following diseases can be found in the Related Disorders section of this report:

• Oligohydramnios Sequence (Potter Syndrome)
• Cat-Eye Syndrome
• Fraser Syndrome
• Melnick-Fraser Syndrome
• MURCS Association
• Rokitansky Sequence
• Sirenomelia Sequence
• Unilateral Renal Agenesis

Bilateral renal agenesis is characterized by the absence of kidneys and of urine in a baby. The face usually consists of wide-set eyes; a "parrot beak" nose; a receding chin, and large low set ears deficient in cartilage. Other symptoms may include excess and dehydrated skin, a prominent fold at the corner of each eye, the facial expression of an older infant, and deformities of the hands and feet.

Premature labor, breech delivery and a disproportionately low birthweight are often associated with bilateral renal agenesis. The baby may also have multiple malformations including in females the absence of a uterus and upper vagina, or in males an absence of seminal vesicles and spermatic duct. Gastro-intestinal malformations such as the absence of a rectum, esophagus and duodenum may also occur. Symptoms may further include the presence of only a single umbilical artery, and major deformities of the lower part of the body and the lower limbs.

Bilateral renal agenesis is an autosomal dominant genetic disorder. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Bilateral renal agenesis tends to occur when at least one parent has a kidney malformation or the absence of a kidney (unilateral kidney agenesis).

Bilateral renal agenesis is found in male infants more frequently than females. It tends to occur in the children of parents having kidney abnormalities. It is a very rare disorder.

Symptoms of the following disorders can be similar to those of Bilateral Renal Agenesis. Comparisons may be useful for a differential diagnosis:

Oligohydramnios Sequence (Potter Syndrome) is characterized by an insufficient level of amniotic fluid. It may be caused by the absence of urinary output by the fetus or by chronic leakage of fluid from the amniotic sack.

Cat-Eye Syndrome (Coloboma of Iris-Anal Atresis Syndrome), is a disorder which is characterized by a fissure in the iris of the eye and the absence of an anal opening. Other abnormalities may include renal agenesis.

Fraser Syndrome (Cryptophthalmos Syndrome) is a genetic disorder in which the infant is born with sealed eyelids and incomplete development of the sexual organs.

Melnick-Fraser Syndrome (Branchio-Oto-Renal Syndrome) is a genetic disorder characterized by hearing loss and kidney malformations, including renal agenesis.

MURCS Association (Mullerian Duct, Renal and Cervical Vertebral Defects) is a rare disorder characterized by malformation of the vertebrae, and absence of a vagina and kidneys.

Rokitansky Sequence is a disorder in which the vagina and uterus are incompletely formed.

Sirenomelia Sequence results in the growth of a single lower extremity. (For more information on this disorder, choose "Sirenomelia" as your search term in the Rare Disease Database.

Unilateral Renal Agenesis is the presence of only one kidney at birth.

Treatment of bilateral renal agenesis is symptomatic and supportive.

Research into the cause of renal agenesis is ongoing, with the hope of identifying the gene that causes this birth defect.

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Latini JM, et al., Prenatal failure to visualize kidneys: a spectrum of disease. Urology. 1998;52:306-11.

Georgieff MK, et al., Liver and brain iron deficiency in newborn infants with bilateral renal agenesis (Potter’s syndrome). Pediatr Pathol Lab Med. 1996;16:50919.

Sepulveda W, et al., Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second-trimester oligohydramnios. Am J Obstet Gynecol. 1995;173:1788-92.

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