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

• Cryptorchidism Arachnodactyly Intellectual Deficit
• Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome

What is Van Benthem-Driessen-Hanveld Syndrome? (Definition/Background Information)

• Van Benthem-Driessen-Hanveld Syndrome is a rare genetic disorder characterized by undescended testes, intellectual deficiency, long head, other skeletal abnormalities such as scoliosis and low muscle tone

Who gets Van Benthem-Driessen-Hanveld Syndrome? (Age and Sex Distribution)

• Van Benthem-Driessen-Hanveld 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 Van Benthem-Driessen-Hanveld Syndrome? (Predisposing Factors)

• A positive family history could be an important risk factor, since Van Benthem-Driessen-Hanveld Syndrome may be inherited
• Currently, no other risk factors have been clearly identified for the 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 Van Benthem-Driessen-Hanveld Syndrome? (Etiology)

The exact underlying cause of Van Benthem-Driessen-Hanveld Syndrome is currently unknown.

What are the Signs and Symptoms of Van Benthem-Driessen-Hanveld Syndrome?

The signs and symptoms of Van Benthem-Driessen-Hanveld Syndrome may vary, but may include:

Very frequently present symptoms in 80-99% of the cases:

• Dolichocephaly
• Arachnodactyly
• Aplasia/Hypoplasia of the lungs
• Intellectual disability
• Kyphosis
• Muscular hypotonia
• Pectus carinatum
• Scoliosis
• Strabismus

Frequently present symptoms in 30-79% of the cases:

• Abnormality of the dentition
• Abnormality of the testis
• Abnormality of the voice
• Bilateral single transverse palmar creases
• Delayed skeletal maturation
• Hypospadias
• Joint stiffness
• Recurrent respiratory infections

(Source: Van Benthem-Driessen-Hanveld Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Van Benthem-Driessen-Hanveld Syndrome Diagnosed?

Van Benthem-Driessen-Hanveld 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 Benthem-Driessen-Hanveld Syndrome?

The complications of Van Benthem-Driessen-Hanveld Syndrome may include:

• Breathing difficulties due to incomplete development of lungs
• Possible problems with movement owing to skeletal problems, joint stiffness, and low muscle tone

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

How is Van Benthem-Driessen-Hanveld Syndrome Treated?

• At the present time, no information is available regarding treatment for Van Benthem-Driessen-Hanveld Syndrome
• Since it is a genetic condition; presently, the condition may not be curable. The treatment is usually given to manage the signs and symptoms and any complications that develop

How can Van Benthem-Driessen-Hanveld Syndrome be Prevented?

Currently, Van Benthem-Driessen-Hanveld Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• 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 Benthem-Driessen-Hanveld Syndrome? (Outcomes/Resolutions)

• The prognosis of Van Benthem-Driessen-Hanveld 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 Benthem-Driessen-Hanveld Syndrome:

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

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