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

• De Die-Smulders-Vles Fryns Syndrome
• Arachnodactyly-intellectual disability-dysmorphism syndrome

What is Die-Smulders-Vles Fryns Syndrome? (Definition/Background Information)

• Die-Smulders-Vles Fryns Syndrome, also known as Arachnodactyly-intellectual disability-dysmorphism syndrome, is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia 
• This group of congenital disorders is extremely rare, and has been described in three patients

(Source: Arachnodactyly-intellectual disability-dysmorphism syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Die-Smulders-Vles Fryns Syndrome? (Age and Sex Distribution)

• Die-Smulders-Vles Fryns Syndrome is an extremely rare congenital disorder. The presentation of symptoms may occur soon after birth or in infancy
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Die-Smulders-Vles Fryns Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Die-Smulders-Vles Fryns Syndrome can be inherited
• Currently, no risk factors have been clearly identified for Die-Smulders-Vles Fryns 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 Die-Smulders-Vles Fryns Syndrome? (Etiology)

• The exact underlying genetic cause of Die-Smulders-Vles Fryns Syndrome is currently unknown. However, researchers suspect that there may be genetic and/or environmental factors that contribute to the development of the disorder
• The inheritance pattern for Die-Smulders-Vles Fryns Syndrome is not clearly known

What are the Signs and Symptoms of Die-Smulders-Vles Fryns Syndrome?

The signs and symptoms of Die-Smulders-Vles Fryns Syndrome may include:

• Small head (Brachycephaly)
• Thin lips 
• Small mouth (microstomia)
• Thin appearance (ectomorphic habitus)
• Long, thin fingers and toes
• Underdeveloped reproductive organs (hypoplastic genitalia)
• Moderate intellectual deficit

(Source: Arachnodactyly-intellectual disability-dysmorphism syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Die-Smulders-Vles Fryns Syndrome Diagnosed?

Die-Smulders-Vles Fryns 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 Die-Smulders-Vles Fryns Syndrome?

The complications of Die-Smulders-Vles Fryns Syndrome may include:

• Infertility
• Intellectual impairment 

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

How is Die-Smulders-Vles Fryns Syndrome Treated?

There is no cure for Die-Smulders-Vles Fryns Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that may develop

How can Die-Smulders-Vles Fryns Syndrome be Prevented?

• Die-Smulders-Vles Fryns 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 Die-Smulders-Vles Fryns Syndrome? (Outcomes/Resolutions)

• The prognosis of Die-Smulders-Vles Fryns 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 Die-Smulders-Vles Fryns Syndrome:

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

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