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

• X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
• X-Linked Mental Retardation Associated with Psoriasis
• X-Linked Mental Retardation, Tranebjaerg type Seizures and Psoriasis

What is Tranebjaerg Svejgaard Syndrome? (Definition/Background Information)

• Tranebjaerg Svejgaard Syndrome is a rare condition that is characterized by intellectual disability, seizures and psoriasis. It has been reported in four male cousins
• The underlying genetic cause of the condition is currently unknown; however, it is thought to be inherited in an X-linked manner
• Treatment is based on the signs and symptoms present in each person and may include medications to control seizures

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

Who gets Tranebjaerg Svejgaard Syndrome? (Age and Sex Distribution)

• Tranebjaerg Svejgaard Syndrome is a rare congenital disorder, reported in 4 male cousins in one family
• The presentation of symptoms may occur at birth or in infancy
• The condition predominantly affects males
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Tranebjaerg Svejgaard Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Tranebjaerg Svejgaard Syndrome can 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 Tranebjaerg Svejgaard Syndrome? (Etiology)

• The genetic cause of Tranebjaerg Svejgaard Syndrome is not known at the present time
• The condition is believed to be transmitted 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 Tranebjaerg Svejgaard Syndrome?

The signs and symptoms of Tranebjaerg Svejgaard Syndrome may include:

• Psoriasiform dermatitis
• Seizures

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

How is Tranebjaerg Svejgaard Syndrome Diagnosed?

Tranebjaerg Svejgaard 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 Tranebjaerg Svejgaard Syndrome?

The complications of Tranebjaerg Svejgaard Syndrome may include:

• Severe mental retardation
• Poor quality of life

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

How is Tranebjaerg Svejgaard Syndrome Treated?

There is no cure for Tranebjaerg Svejgaard 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 Tranebjaerg Svejgaard Syndrome be Prevented?

Tranebjaerg Svejgaard 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 Tranebjaerg Svejgaard Syndrome? (Outcomes/Resolutions)

• The prognosis of Tranebjaerg Svejgaard 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 Tranebjaerg Svejgaard Syndrome:

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

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