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

• JMS (Juberg Marsidi Syndrome)
• Mental Retardation, X-linked with Growth Delay, Deafness, Microgenitalism
• X-Linked Hypogonadism Gynecomastia Mental Retardation

What is Juberg Marsidi Syndrome? (Definition/Background Information)

• Juberg Marsidi Syndrome (JMS) is an inherited genetic disorder caused by a mutation in the X chromosome. It is a very rare disorder
• Owing to the X-linked nature of transmission, Juberg Marsidi Syndrome only affects males. However, it has been reported that females with a single copy of the defective gene do exhibit some symptoms associated with the disorder
• The condition manifests at birth or becomes apparent in the first few weeks of the newborn’s life. JMS may be diagnosed by the characteristic facial features of the newborn and confirmation sought through genetic testing
• Having a family history of the disease is considered the greatest risk factor for Juberg Marsidi Syndrome. The cause of Juberg Marsidi Syndrome is reported to be a defect in a gene on the long arm of the X-chromosome. The recessive gene gets expressed in males owing to the presence of only one X-chromosome
• Thus, genetic counseling might help prospective parents with a family history of Juberg Marsidi Syndrome understand the disease and its potential implications when planning for a family
• The syndrome is characterized by abnormal facial features, small head, under-developed genitalia, delay in reaching developmental milestones, and a short stature. The complications of Juberg Marsidi Syndrome may include severe motor disabilities owing to low muscle tone and severe mental retardation
• The treatment measures might include physiotherapy to improve muscle tone, occupational therapy to allow a child reach his/her developmental milestone potential, and corrective surgery or lenses to improve vision
• Treatment for Juberg Marsidi Syndrome is generally supportive, to aid in relief of symptoms and let an individual lead as independent a life as possible. However, the symptoms of the disorder vary between individuals and the prognosis is dependent on the severity of the symptoms

Who gets Juberg Marsidi Syndrome? (Age and sex Distribution)

• Juberg Marsidi Syndrome is a rare genetic disorder, which either manifests at birth (congenital) or becomes apparent during the first few weeks after the child’s birth
• Owing to the X-linked trait of the disease, males are more affected than females. Females have two X chromosomes, and the normal gene on one renders a masking effect on the effects of the recessive, defective gene on the X-chromosome

What are the Risk Factors for Juberg Marsidi Syndrome? (Predisposing Factors)

• Having a family history of Juberg Marsidi Syndrome is considered the most important risk factor 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 ones 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 health care provider.

What are the Causes of Juberg Marsidi Syndrome? (Etiology)

• Juberg Marsidi Syndrome is a genetic disorder. Most cases of JMS are transmitted via X-linked recessive inheritance
• Males, when they inherit the defective recessive gene from their mother on the X-chromosome, may be diagnosed with Juberg Marsidi Syndrome
• Even if a female has a defective, recessive gene, the effect of the defective gene might get masked owing to the presence of a normal gene in the other X-chromosome

X-linked recessive: X-linked recessive conditions are traits or disorders that occur when two copies of an abnormal gene are inherited on a sex chromosome (X or Y chromosome). All X-linked recessive traits are fully evident in males, because they have only one copy of the X chromosome. This means that there is no normal gene present to mask the effects of the mutant copy. All males who are affected will pass the mutated gene onto their female offspring, because they must inherit one copy of the X chromosome from each parent. This means that they will be unaffected carriers. Females are rarely affected by X-linked recessive disorders because they have two copies of the X chromosome. In the rare case that they inherit two mutated copies of the gene, they will inherit the condition.

What are the Signs and Symptoms of Juberg Marsidi Syndrome?

The signs and symptoms of Juberg Marsidi Syndrome include:

• Delayed growth milestones such as crawling, walking, etc.
• Abnormal facial features such as:
  • Epicanthic skin folds over the eyes
  • Widely-spaced eyes
  • Small triangular nose
  • Flat nasal bridge
  • Protruding tongue
  • Abnormal teeth
  • Small head (microcephaly)
• Abnormalities of the head and facial area (cranio-facial abnormalities)
• Low muscle tone (hypotonia)
• Underdevelopment of genitalia (microgenitalism)
• Sensorineural hearing loss
• Short stature

How is Juberg Marsidi Syndrome Diagnosed?

Juberg Marsidi Syndrome is diagnosed by the following methods:

• Characteristic clinical features and family history of the condition
• Genetic testing for Juberg Marsidi Syndrome

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 Juberg Marsidi Syndrome?

Juberg Marsidi Syndrome may have varied manifestations. Based on the severity of condition, it may be physically and mentally incapacitating. Some common complications associated with JMS include:

• Severe motor disability
• Severe mental retardation

How is Juberg Marsidi Syndrome Treated?

The treatment of Juberg Marsidi Syndrome is generally supportive and geared toward symptom relief. Presently, there is no cure for this disorder. Some of the treatment options available for JMS include:

• Physical therapy to maintain the tone of the muscles
• Occupational therapy to help children perform activities of normal life (daily living) such as brushing, eating, and personal grooming. The treatment is meant to focus on the child reaching his/her maximum developmental potential
• Engaging an audiologist to help in assessing, and if possible, correcting hearing defects
• Surgery to correct eye defects; corrective lenses to improve vision
• Special nutrition and feeding methods (such as the use of a gastrostomy tube)
• Special education (social, vocational) to help the affected individual

How can Juberg Marsidi Syndrome be Prevented?

• Currently, there are no specific methods or guidelines to prevent Juberg Marsidi Syndrome, since it is a genetic condition
• 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, such as Juberg Marsidi Syndrome

For each affected individual, the sibling has a 25% chance of being affected, 50% chance of being a carrier and 25% chance of being unaffected and not being a carrier.

What is the Prognosis of Juberg Marsidi Syndrome? (Outcomes/Resolutions)

The prognosis of Juberg Marsidi Syndrome is variable. It depends on the range of symptoms and the severity in each individual.

Additional and Relevant Useful Information for Juberg Marsidi Syndrome:

• According to the National Organization for Rare Disorders (NORD) in the USA, approximately 6 families have thus far been identified as being affected by Juberg-Marsidi Syndrome in the medical literature

Please visit our Rare Diseases & Disorders Center for more physician-approved health information:

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