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

• Duane Anomaly Associated with Mental Retardation
• Duane Anomaly with Mental Retardation, Cardiac and Urinary Tract Abnormalities
• Duane Syndrome with Mental Retardation

What is Duane Anomaly Mental Retardation Syndrome? (Definition/Background Information)

• Duane Anomaly Mental Retardation Syndrome is a very rare inherited disorder, characterized by limited movement of the eyes, mental retardation, heart defects and problems with the urinary tract
• The causative genes for this condition are not clearly identified. The disorder is transmitted in an autosomal recessive manner

Who gets Duane Anomaly Mental Retardation Syndrome? (Age and Sex Distribution)

• Duane Anomaly Mental Retardation Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth or later in childhood
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Duane Anomaly Mental Retardation Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Duane Anomaly Mental Retardation Syndrome can be inherited
• Children born to parents who are close blood relatives (such as first cousins) may have an increased risk

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 Duane Anomaly Mental Retardation Syndrome? (Etiology)

• The exact underlying cause of Duane Anomaly Mental Retardation Syndrome is currently unknown
• The syndrome is a genetic disorder that is known to be inherited in an autosomal recessive manner

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Duane Anomaly Mental Retardation Syndrome?

The signs and symptoms of Duane Anomaly Mental Retardation Syndrome may include:

• Facial dysmorphism
• Microcephaly (significantly small head at birth)
• Progressive weakness and stiffness in legs
• Restricted eye movements
• Backward flow of urine into the kidneys due to abnormalities in the structure of ureters (tubes that take urine from kidney to bladder), which can cause the following:
• Flank pain
• Blood in urine
• Protein in urine
• Bedwetting
• Fever
• Atrial septal defect (presence of a hole between the upper chambers of the heart, known as atria), which can cause the following:
• Listlessness
• Swelling in legs, abdomen
• Breathing difficulties
• Abnormal heart rhythms
• Mental retardation

How is Duane Anomaly Mental Retardation Syndrome Diagnosed?

Duane Anomaly Mental Retardation 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 Duane Anomaly Mental Retardation Syndrome?

The complications of Duane Anomaly Mental Retardation Syndrome may include:

• Problems with movement
• Susceptibility to infections
• Pulmonary hypertension
• Heart failure

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

How is Duane Anomaly Mental Retardation Syndrome Treated?

There is no cure for Duane Anomaly Mental Retardation Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Duane Anomaly Mental Retardation Syndrome be Prevented?

• Currently, Duane Anomaly Mental Retardation Syndrome may not be preventable, since it is a genetic disorder
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Duane Anomaly Mental Retardation Syndrome? (Outcomes/Resolutions) 

• The prognosis of Duane Anomaly Mental Retardation 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 Duane Anomaly Mental Retardation Syndrome:

• Duane Anomaly Mental Retardation Syndrome is also known by the following names: Duane Anomaly with Mental Retardation

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

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