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Renier Gabreels Jasper Syndrome

Last updated Dec. 28, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Renier-Gabreels-Jasper Syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (mental retardation, X-linked-hypotonic facies).


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

  • Renier-Gabreels-Jasper Syndrome
  • RGJ Syndrome

What is Renier Gabreels Jasper Syndrome? (Definition/Background Information)

  • Renier-Gabreels-Jasper Syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterized by the association of intellectual deficit with hypotonic facies (mental retardation, X-linked-hypotonic facies)
  • The syndrome is characterized by the association of microcephaly, spasticity, epilepsy, deafness and severe intellectual deficit. Female carriers show microcephaly and subnormal intelligence

(Source: Renier Gabreels Jasper Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Renier Gabreels Jasper Syndrome? (Age and Sex Distribution)

  • Renier-Gabreels-Jasper Syndrome is an extremely rare inherited disorder. The onset of symptoms may occur at birth or in infancy
  • Males are predominantly affected by this condition. Some females may show symptoms, which may be less severe than those in males

What are the Risk Factors for Renier Gabreels Jasper Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Renier Gabreels Jasper Syndrome can be inherited
  • Currently, no other risk factors have been clearly identified for the condition

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 Renier Gabreels Jasper Syndrome? (Etiology)

  • The genetic cause of Renier Gabreels Jasper Syndrome is not known at the present time
  • The condition is inherited in an X-linked recessive manner

X-linked recessive pattern: 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 Renier Gabreels Jasper Syndrome?

The signs and symptoms of Renier Gabreels Jasper Syndrome in men may include:

  • Microcephaly
  • Spasticity
  • Epilepsy
  • Deafness 
  • Intellectual deficit

The signs and symptoms of Renier Gabreels Jasper Syndrome in women may include:

  • Microcephaly 
  • Subnormal intelligence

(Source: Renier Gabreels Jasper Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Renier Gabreels Jasper Syndrome Diagnosed?

Renier Gabreels Jasper 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 Renier Gabreels Jasper Syndrome?

The complications of Renier Gabreels Jasper Syndrome may include:

  • Risk of falls and injuries due to seizures
  • Problems with movement
  • Severe intellectual deficiency

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

How is Renier Gabreels Jasper Syndrome Treated?

There is no cure for Renier Gabreels Jasper 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 Renier Gabreels Jasper Syndrome be Prevented?

Currently, Renier Gabreels Jasper 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 Renier Gabreels Jasper Syndrome? (Outcomes/Resolutions)

  • The prognosis of Renier Gabreels Jasper 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 Renier Gabreels Jasper Syndrome:

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

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

What are some Useful Resources for Additional Information?


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Dec. 28, 2018
Last updated: Dec. 28, 2018