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

• Mental Deficiency, Choroideremia, Acrokeratosis Verruciformis, Anhidrosis, Skeletal Deformity Syndrome

What is Van Den Bosch Syndrome? (Definition/Background Information)

• Van Den Bosch Syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities 
• It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion

(Source: Van Den Bosch Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Van Den Bosch Syndrome? (Age and Sex Distribution)

• Van Den Bosch Syndrome is an extremely rare congenital disorder. So far, it has been reported in members of one family
• Since it is an X-linked recessive condition, Van Den Bosch Syndrome may be predominantly observed in males
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Van Den Bosch Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Van Den Bosch Syndrome can be inherited

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 Van Den Bosch Syndrome? (Etiology)

• It is believed that Van Den Bosch Syndrome is caused by deletions on the X chromosome
• The disorder is inherited in an X-linked recessive manner

X-linked recessive pattern of inheritance: The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

What are the Signs and Symptoms of Van Den Bosch Syndrome?

The signs and symptoms of Van Den Bosch Syndrome may include:

• Abnormality of the skeletal system
• Acrokeratosis 
• Anhidrosis (lack of sweating)
• Choroideremia
• Intellectual disability

(Source: Van Den Bosch Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is Van Den Bosch Syndrome Diagnosed?

Van Den Bosch 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 Van Den Bosch Syndrome?

The complications of Van Den Bosch Syndrome may include:

• Overheating of the body and heat stroke due to lack of sweating (anhidrosis)
• Progressive deterioration of vision impairment due to choroideremia
• Cosmetic concerns and low self-esteem due to the presence of warts on skin (acrokeratosis verruciformis)

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

How is Van Den Bosch Syndrome Treated?

There is no cure for Van Den Bosch 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 Van Den Bosch Syndrome be Prevented?

Van Den Bosch 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 Van Den Bosch Syndrome? (Outcomes/Resolutions)

• The prognosis of Van Den Bosch 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 Van Den Bosch Syndrome:

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

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