Tag: hypotonia

  • Prader Willi Syndrome

    Prader Willi Syndrome: Definition and Description of Prader Willi Syndrome: Prader Willi Syndrome (PWS) is a complex genetic disorder characterized by a range of symptoms including hypotonia (poor muscle tone), obesity, cognitive impairment, and behavioral issues. PWS is caused by the loss of function of specific genes on chromosome 15, which typically occurs due to…

  • Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome (HHHO)

    Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome (HHHO) Definition and Description of Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome (HHHO) Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome (HHHO) is a rare genetic disorder characterized by a triad of symptoms: hypotonia (decreased muscle tone), hypomentia (reduced cognitive abilities), and hypogonadism (underdeveloped reproductive organs), in addition to obesity. This condition often results in significant developmental delays and physical challenges, requiring multidisciplinary care.…

  • D Trisomy Syndrome

    D Trisomy Syndrome Definition and Description of D Trisomy Syndrome D Trisomy Syndrome, also known as Trisomy D or 2q37 deletion syndrome, is a rare chromosomal disorder resulting from the presence of an extra chromosome 2 in an individual’s cells. This additional genetic material alters the normal development and function of various bodily systems. Typically…