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

• Short Stature, Intellectual Disability, Facial Dysmorphism, Short Webbed Neck, Skin Changes and Congenital Heart Disease
• Short Stature-Webbed Neck-Heart Disease Syndrome

What is Al Gazali Aziz Salem Syndrome? (Definition/Background Information)

• Al Gazali Aziz Salem Syndrome, or Short Stature-Webbed Neck-Heart Disease Syndrome, is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects
• It has been reported in four Arab Bedouin siblings born to consanguineous parents

(Source: Short stature-webbed neck-heart disease syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Al Gazali Aziz Salem Syndrome? (Age and Sex Distribution)

• Al Gazali Aziz Salem Syndrome is a very rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected. However, most cases are predominantly reported among the Bedouins (belonging to the Arab nations)

What are the Risk Factors for Al Gazali Aziz Salem Syndrome? (Predisposing Factors)

The risk factors for Al Gazali Aziz Salem Syndrome may include:

• Children of parents who are closely related (by blood) have a very high risk for the syndrome
• Belonging to Bedouin (Arab) descent

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 Al Gazali Aziz Salem Syndrome? (Etiology)

The exact cause of development of Al Gazali Aziz Salem Syndrome is presently unknown.

What are the Signs and Symptoms of Al Gazali Aziz Salem Syndrome?

The signs and symptoms of Al Gazali Aziz Salem Syndrome may include:

• Short stature
• Intellectual deficit
• Facial dysmorphism
• Short webbed neck
• Skin changes
• Congenital heart defects

(Source: Short stature-webbed neck-heart disease syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Al Gazali Aziz Salem Syndrome Diagnosed?

Al Gazali Aziz Salem 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 Al Gazali Aziz Salem Syndrome?

The complications of Al Gazali Aziz Salem Syndrome may include:

• Heart abnormalities
• Decreased quality of life

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

How is Al Gazali Aziz Salem Syndrome Treated?

Presently, there is no cure for Al Gazali Aziz Salem Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Al Gazali Aziz Salem Syndrome be Prevented?

• Currently, Al Gazali Aziz Salem Syndrome may not be preventable, since the cause of this disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Al Gazali Aziz Salem Syndrome? (Outcomes/Resolutions)

• The prognosis of Al Gazali Aziz Salem 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 Al Gazali Aziz Salem Syndrome:

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

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