Qazi Markouizos Syndrome

What is Qazi Markouizos Syndrome?

Qazi Markouizos Syndrome is called by a wide variety of names including Puerto Rican infant hypotonia syndrome, hypotonia, psychomotor retardation and dysharmonic skeletal maturation. All of these names refer to an incurable genetic disease that begins to show symptoms soon after birth or even earlier. The most common name, Qazi Markouizos syndrome, is derived from the names of two doctors that discovered the condition in 1994.

Although it is known that this disease in inherited, it is still unknown just what gene or genes are affected that causes Qazi Markouizos syndrome. This is one of the rarest diseases on the planet. Only three patients have been documented. All three were newborn Puerto Rican boys. It is unknown if girls would ever be affected in the future or if more races other than Puerto Ricans could be affected.

What are the Symptoms of Qazi Markouizos Syndrome?

Babies with Qazi Markouizos syndrome appear deformed in the face. They are prone to a wide variety of symptoms including seizures, abnormal bone development, severe coordination problems due to floppy baby syndrome or extreme low muscle tone, undescended testicles, mental retardation and deformities of the skeleton.

How is Qazi Markouizos Syndrome Treated?

Sadly, there is no cure, medication or medical procedure for Qazi Markouizos syndrome. Any treatment plan is based only on alleviating specific symptoms. Since there have been so few patients diagnosed with Qazi Markouizos syndrome in recorded history, treatment plans are still in the experimental trial-and-error phases. The three Puerto Rican boys were three and four years old when diagnosed. Due to privacy issues it is unknown how long the boys lived or if they are still alive.

The prognosis is not good. Not only is it a battle for patients to stay alive but those that do stay alive are hampered by tremendous physical and mental handicaps. If and when the patients need surgery, they will have problems being able to handle anesthesia.

Last Reviewed:
October 10, 2016
Last Updated:
August 23, 2017
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