/Qazi Markouizos syndrome

Qazi Markouizos syndrome

Rare Disease

MONDO:0010816

Also Known As

Dysharmonic skeletal maturation - muscular fiber disproportionDysharmonic skeletal maturation - muscular fibre disproportionDysharmonic skeletal maturation-muscular fiber disproportion syndromeDysharmonic skeletal maturation-muscular fibre disproportion syndromeQazi-Markouizos syndromeDysharmonic skeletal maturation muscular fiber disproportionDysharmonic skeletal maturation muscular fibre disproportionPUERTO RICAN infant hypotonia syndromePuertorican infant hypotonia syndromehypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fiber type disproportionhypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion

Definition

Qazi-Markouizos syndrome is characterized 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.