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

• Dyssegmental Dysplasia Glaucoma Syndrome

What is Dyssegmental Dysplasia and Glaucoma? (Definition/Background Information)

• Dyssegmental Dysplasia and Glaucoma is characterized by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported
• The syndrome has been described in two unrelated children

(Source: Dyssegmental Dysplasia and Glaucoma; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Dyssegmental Dysplasia and Glaucoma? (Age and Sex Distribution)

• Dyssegmental Dysplasia and Glaucoma is an extremely rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected

What are the Risk Factors for Dyssegmental Dysplasia and Glaucoma? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Dyssegmental Dysplasia and Glaucoma

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 Dyssegmental Dysplasia and Glaucoma? (Etiology)

The exact cause of Dyssegmental Dysplasia and Glaucoma is currently unknown.

What are the Signs and Symptoms of Dyssegmental Dysplasia and Glaucoma?

The signs and symptoms of Dyssegmental Dysplasia and Glaucoma may include:

• Kniest dysplasia
• Spinal cord abnormalities
• Dwarfism
• Glaucoma

How is Dyssegmental Dysplasia and Glaucoma Diagnosed?

Dyssegmental Dysplasia and Glaucoma 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 Dyssegmental Dysplasia and Glaucoma?

The complications of Dyssegmental Dysplasia and Glaucoma may include:

• Severe dwarfism
• Severe deformities due to spinal cord defects
• Visual impairment

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

How is Dyssegmental Dysplasia and Glaucoma Treated?

There is no cure for Dyssegmental Dysplasia and Glaucoma. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Dyssegmental Dysplasia and Glaucoma be Prevented?

• Currently, Dyssegmental Dysplasia and Glaucoma may not be preventable, since the cause of the condition is unknown.
• 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 Dyssegmental Dysplasia and Glaucoma? (Outcomes/Resolutions)

• The prognosis of Dyssegmental Dysplasia and Glaucoma 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 Dyssegmental Dysplasia and Glaucoma:

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

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