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

• Craniosynostosis, Midfacial Hypoplasia, and Foot Abnormalities
• Jackson-Weiss Craniosynostosis
• Kuhns Toe

What is Jackson-Weiss Syndrome? (Definition/Background Information)

• Jackson-Weiss Syndrome (JWS) is a rare genetic disorder caused by alterations in the FGFR2 gene located on chromosome 10 having a congenital manifestation. It is characterized by malformations in the head, face, and feet
• Jackson-Weiss Syndrome is inherited in the autosomal dominant pattern meaning that one copy of the defective gene in each cell is sufficient to inherit the disorder
• Generally, the condition may be diagnosed by observing the characteristic signs and symptoms. Following a diagnosis of Jackson-Weiss Syndrome, the condition is managed symptomatically. The overall outcome of JWS depends on the severity of its presentations

Who gets Jackson-Weiss Syndrome? (Age and Sex Distribution)

• Jackson-Weiss Syndrome is a very rare congenital disorder that is present at birth
• Both males and females are affected
• Worldwide, no racial and ethnic group preference is noted

What are the Risk Factors for Jackson-Weiss Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Jackson-Weiss Syndrome (JWS) can be inherited
• Currently, no other risk factors have been clearly identified JWS

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 Jackson-Weiss Syndrome? (Etiology)

• Jackson-Weiss Syndrome (JWS) is a genetic disorder that is inherited from the parents in an autosomal dominant pattern i.e., one copy of the defective gene in each cell is sufficient to inherit the disorder
• Alterations and changes that occur in the FGFR2 gene causes JWS. This gene is responsible for the following:
  • Providing instructions for making a protein called as fibroblast growth factor receptor 2
  • Giving instructions to the immature cells to become bone cells during embryonic development
• When an alteration occurs in such an important gene, it over activates the FGFR2 protein resulting in premature fusion of the skull bones leading to malformations in the face, head, and foot

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Jackson-Weiss Syndrome?

The signs and symptoms of Jackson-Weiss Syndrome may vary from one individual to another and can be mild or severe.

• The skull bones join together earlier than what is expected during normal growth and development (crania fusion of bone). This may result in the following:
  • Abnormality of the skull bone
  • Misshaped skull; asymmetrical appearance of the head
  • Eyes are widely-spaced
  • Bulging forehead
  • Midface hypoplasia: Underdevelopment of the mid face area
• Malformations of the feet may include:
  • Toes are short and wide
  • Bent toes away from other toes
  • Syndactyly- fusion of the toes or abnormal shape of the toes

How is Jackson-Weiss Syndrome Diagnosed?

A healthcare provider may suspect Jackson-Weiss Syndrome based on the birth defects exhibited by the disorder. Generally, the characteristic feet and face anomalies can lead to a definitive diagnosis.

Typically, the following tools may aid in the diagnosis:

• Complete physical examination and thorough medical (family) history evaluation
• Radiological imaging studies of the affected regions
• In addition, molecular genetic testing may be done to confirm the diagnosis
• Prenatal ultrasound examination based on molecular genetics techniques can also help in diagnosing Jackson-Weiss 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 Jackson-Weiss Syndrome?

The potential complications of Jackson-Weiss Syndrome include:

• Craniosynostosis: Premature fusion of the skull bones causing irritability, increased sleepiness, poor feeding, projectile vomiting, and developmental delays in babies
• Midfacial defect
• Learning disabilities
• Reduced quality of life
• Treatment complications

How is Jackson-Weiss Syndrome Treated?

Jackson-Weiss Syndrome is an incurable condition that is generally treated to manage the signs and symptoms and any complication that develops.

• Help from craniofacial specialists is sought to rectify the various malformations
• Surgery is recommended to correct or lessen the defect due to face and foot abnormalities
• Physiotherapy

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

How can Jackson-Weiss Syndrome be Prevented?

Currently, there are no specific methods or guidelines to prevent Jackson-Weiss Syndrome 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

What is the Prognosis of Jackson-Weiss Syndrome? (Outcomes/Resolutions)

• The prognosis of Jackson-Weiss 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
• Effective management of the disorder with the help of craniofacial specialist can help the affected individual have a near normal and improved quality of life

Additional and Relevant Useful Information for Jackson-Weiss Syndrome:

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

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