Qazi–Markouizos syndrome is a rare hereditary condition characterized by non-progressive, congenital

hypotonia Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different dis ...

, severe intellectual disability, an increased proportion of type 2

muscle fibers Skeletal muscle (commonly referred to as muscle) is one of the three types of vertebrate muscle tissue, the others being cardiac muscle and smooth muscle. They are part of the somatic nervous system, voluntary muscular system and typically are a ...

, which additionally exhibit increased size, as well as dysharmonic skeletal maturation. To date, the molecular mechanism of Qazi–Markouizos syndrome, which is also known as Puerto Rican infant

syndrome,OMIM Entry - 600096 - PUERTO RICAN INFANT HYPOTONIA SYNDROME
/ref> remains unknown.

References

External links

* Genetic syndromes Syndromes {{Genetic-disorder-stub}