Tag: genetic disorder

  • Mucopolysaccharidosis Type I

    Mucopolysaccharidosis Type I: Definition and Description of Mucopolysaccharidosis Type I: Mucopolysaccharidosis Type I (MPS I) is a rare genetic disorder resulting from a deficiency of the enzyme alpha-L-iduronidase. This deficiency leads to the accumulation of glycosaminoglycans (GAGs), which are long chains of sugar molecules that are essential for various bodily functions. The excessive buildup of…

  • Morgagni-Turner-Albright Syndrome

    Morgagni-Turner-Albright Syndrome: Definition and Description of Morgagni-Turner-Albright Syndrome: Morgagni-Turner-Albright Syndrome (MTAS) is a rare genetic disorder characterized by a combination of various endocrine, skeletal, and other physical anomalies. This syndrome typically manifests from a mutation in the GNAS gene, leading to the development of symptoms related to fibrous dysplasia of bone, precocious puberty, and hormonal…

  • KTW Syndrome

    KTW Syndrome Definition and Description of KTW Syndrome KTW Syndrome is a rare genetic disorder characterized by notable craniofacial abnormalities, growth deficiencies, and various systemic issues. The acronym “KTW” refers to the surnames of the researchers who first described the condition. Patients with KTW Syndrome may exhibit distinctive features, including low-set ears, a broad nose,…

  • Infantile Spinal Muscular Atrophy

    Infantile Spinal Muscular Atrophy Definition and Description of Infantile Spinal Muscular Atrophy Infantile Spinal Muscular Atrophy (SMA) is a genetic disorder characterized by the loss of motor neurons in the spinal cord and the brainstem. This degeneration leads to muscle weakness and atrophy, primarily affecting the muscles responsible for movement. The severity of SMA symptoms…

  • Infantile Spinal Muscular Atrophy Type I

    Infantile Spinal Muscular Atrophy Type I Definition and Description of Infantile Spinal Muscular Atrophy Type I Infantile Spinal Muscular Atrophy Type I (SMA Type I) is a rare genetic disorder characterized by the progressive degeneration of the motor neurons in the spinal cord and brainstem. This leads to severe muscle weakness and atrophy, impacting the…

  • Inherited Lipodystrophy

    Inherited Lipodystrophy Definition and Description of Inherited Lipodystrophy Inherited Lipodystrophy is a rare genetic disorder characterized by the abnormal distribution of body fat. It results in a significant loss of adipose tissue in some regions of the body while causing an accumulation in others, often leading to metabolic disorders. The condition can be classified as…

  • Hutchinson-Gilford Progeria Syndrome (HGPS)

    Hutchinson-Gilford Progeria Syndrome (HGPS) Definition and Description of Hutchinson-Gilford Progeria Syndrome (HGPS) Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder characterized by accelerated aging in children. The term “progeria” comes from Greek, meaning “prematurely old.” HGPS is caused by a mutation in the LMNA gene, which produces the Lamin A protein essential for…

  • 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.…

  • Hunter Syndrome

    Hunter Syndrome Definition and Description of Hunter Syndrome Hunter Syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder that primarily affects males. It is caused by the deficiency of an enzyme called iduronate-2-sulfatase, which is essential for the breakdown of complex carbohydrates known as glycosaminoglycans (GAGs). When this enzyme is…

  • Hurler Disease

    Hurler Disease Definition and Description of Hurler Disease Hurler Disease, also known as mucopolysaccharidosis type I (MPS I), is a rare genetic disorder caused by the deficiency of an enzyme called alpha-L-iduronidase. This enzyme is crucial for breaking down certain complex carbohydrates, known as glycosaminoglycans (GAGs), in the body. The accumulation of these GAGs can…