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

• Dysharmonic Skeletal Maturation Muscular Fiber Disproportion
• Hypotonia, Psychomotor Retardation, Seizures, Delayed and Dysharmonic Skeletal Maturation, and Congenital Fiber-Type Disproportion
• Puertorican Infant Hypotonia Syndrome

What is Qazi-Markouizos Syndrome? (Definition/Background Information)

• Qazi-Markouizos Syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers
• Seizures or an abnormal electroencephalograph were also reported
• To date, the syndrome has been reported in three unrelated Puerto Rican boys

(Source: Qazi Markouizos Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Qazi-Markouizos Syndrome? (Age and Sex Distribution)

• Qazi-Markouizos Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected, although a majority of the reported cases are in males
• Worldwide, individuals of all racial and ethnic groups may be affected. But, most of the cases seem to be described within the US territory of Puerto Rico

What are the Risk Factors for Qazi-Markouizos Syndrome? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Qazi-Markouizos Syndrome

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 Qazi-Markouizos Syndrome? (Etiology)

The exact cause of development of Qazi-Markouizos Syndrome is presently unknown.

What are the Signs and Symptoms of Qazi-Markouizos Syndrome?

The signs and symptoms of Qazi-Markouizos Syndrome may include:

• Abdominal distention
• Abnormal palmar dermatoglyphics
• Abnormality of metabolism/homeostasis
• Chronic constipation
• Cryptorchidism
• Drooling
• Dysharmonic delayed bone age
• EEG abnormality
• High palate
• Hypertelorism
• Long philtrum
• Muscular hypotonia
• Narrow palate
• Open mouth
• Prominent nasal bridge
• Seizures
• Severe global developmental delay
• Tapered finger

(Source: Qazi Markouizos Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Qazi-Markouizos Syndrome Diagnosed?

Qazi-Markouizos 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 Qazi-Markouizos Syndrome?

The complications of Qazi-Markouizos Syndrome may include:

• Overall development delays
• Digestive system abnormalities
• Facial deformities

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

How is Qazi-Markouizos Syndrome Treated?

Presently, there is no cure for Qazi-Markouizos Syndrome. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Qazi-Markouizos Syndrome be Prevented?

• Currently, Qazi-Markouizos 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 Qazi-Markouizos Syndrome? (Outcomes/Resolutions)

• The prognosis of Qazi-Markouizos 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 Qazi-Markouizos Syndrome:

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

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