What are the other Names for this Condition? (Also known as/Synonyms)

• Agenesis of Corpus Callosum with Double Urinary Collecting System 
• Corpus Callosum Agenesis Double Urinary Collecting System
• Trigonocephaly and Minor Anomalies

What is Ben Ari Shuper Mimouni Syndrome? (Definition/Background Information)

• Ben Ari Shuper Mimouni Syndrome is a very rare group of disorders stemming from developmental abnormalities in the band of nerve fibers known as corpus collosum, that delineate the two halves of the brain
• In addition to brain abnormalities, the disorder is also characterized by duplication of ureters (the tubes that collect urine from each kidney and take it to the urinary bladder)

Who gets Ben Ari Shuper Mimouni Syndrome? (Age and Sex Distribution)

• Ben Ari Shuper Mimouni Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Ben Ari Shuper Mimouni Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Ben Ari Shuper Mimouni Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. 

Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Ben Ari Shuper Mimouni Syndrome? (Etiology)

The exact underlying cause of Ben Ari Shuper Mimouni Syndrome is currently unknown.

What are the Signs and Symptoms of Ben Ari Shuper Mimouni Syndrome?

The signs and symptoms of Ben Ari Shuper Mimouni Syndrome vary, but may include:

• Abnormality of the palate
• Abnormality of the voice
• Agenesis of corpus callosum
• Anorectal anomaly
• Cubitus valgus
• Deep philtrum
• Deviation of finger
• Duplicated collecting system
• Intellectual disability
• Low posterior hairline
• Low-set, posteriorly rotated ears
• Sacral dimple
• Trigonocephaly
• Upslanted palpebral fissure

(Source: Corpus Callosum Agenesis Double Urinary Collecting System; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Ben Ari Shuper Mimouni Syndrome Diagnosed?

Ben Ari Shuper Mimouni Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Ben Ari Shuper Mimouni Syndrome?

The complications of Ben Ari Shuper Mimouni Syndrome may include:

• Inability to care for oneself, owing to mental retardation
• Frequent urinary tract infections due to duplicated ureters, one of which may be ectopic
• Urinary incontinence due to ectopic ureter

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Ben Ari Shuper Mimouni Syndrome Treated?

There is no cure for Ben Ari Shuper Mimouni Syndrome. The treatment is usually given to manage the signs and symptoms and any complication that may develop.

How can Ben Ari Shuper Mimouni Syndrome be Prevented?

• Currently, Ben Ari Shuper Mimouni Syndrome may not be preventable
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Ben Ari Shuper Mimouni Syndrome? (Outcomes/Resolutions)

• The prognosis of Ben Ari Shuper Mimouni Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Ben Ari Shuper Mimouni Syndrome:

• Ben Ari Shuper Mimouni Syndrome is named after the scientists who first reported the disorder in the year 1989

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/