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.
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.
Doctors do not know the proper cause of the syndrome which occurs mostly in infants. A baby born prematurely is more susceptible to the syndrome than a normally delivered child, as these infants can lose muscle during the birthing process.
Disorders of the central nervous system (CNS) can cause the disorder. These CNS disorders are divided into structural and functional disorders. Some of them include Bell’s palsy, spinal cord tumors, spinal cord or brain injury, Guillain-Barre syndrome, epilepsy, and neuralgia.
Muscle disorders can also cause the syndrome. These disorders include cramps, atony, fibrositis, myositis, spasticity and muscle fatigue, among others.
Congenital abnormality is also among the possible causes. This term describes congenital disabilities that are observed before or at the birth of an infant notwithstanding the cause. These congenital disabilities vary widely, with causes leaning towards genetics and environmental factors.
Disharmonic and delayed skeletal maturation could also be a factor. This feature has been observed in several bone dysplasias, in which there is an abnormal growth of cells and tissues. This delayed skeletal maturation can contribute to the incidence of the syndrome.
Apart from the listed disorders that contribute to the occurrence of the syndrome, it is mainly caused by genetics.
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.
Preventing the syndrome is sometimes difficult since it usually occurs as a result of genetic disorders. Nevertheless, other management practices can help.