Tag: Medical Diagnosis

  • NDI

    NDI: Definition and Description of NDI: NDI, or Nephrogenic Diabetes Insipidus, is a rare disorder characterized by the kidney’s inability to concentrate urine in response to the hormone vasopressin (also known as antidiuretic hormone, ADH). This condition leads to an inability to retain water, resulting in excessive urination (polyuria) and thirst (polydipsia). Unlike diabetes mellitus,…

  • Murk Jansen Metaphyseal Chondrodysplasia

    Murk Jansen Metaphyseal Chondrodysplasia: Definition and Description of Murk Jansen Metaphyseal Chondrodysplasia: Murk Jansen Metaphyseal Chondrodysplasia is a rare genetic disorder characterized by abnormal development of the bones and cartilage. This form of chondrodysplasia typically presents with metaphyseal widening, short stature, and skeletal deformities. It is inherited in an autosomal recessive pattern, indicating that both…

  • Multiple Lentigines Syndrome

    Multiple Lentigines Syndrome: Definition and Description of Multiple Lentigines Syndrome: Multiple Lentigines Syndrome, also known as Leopard Syndrome, is a rare genetic condition characterized by the appearance of multiple lentigines, which are small, flat, brown or black spots that resemble freckles. These pigmented lesions primarily appear on the face, neck, and upper body but can…

  • Kneecap Instability

    Kneecap Instability Definition and Description of Kneecap Instability Kneecap instability, also known as patellar instability, occurs when the kneecap (patella) fails to remain properly aligned over the knee joint. This condition can lead to dislocation or subluxation (partial dislocation) of the kneecap, causing pain, swelling, and functional impairment. It is often associated with an imbalance…

  • Langerhans Cell Histiocytosis

    Langerhans Cell Histiocytosis Definition and Description of Langerhans Cell Histiocytosis Langerhans Cell Histiocytosis (LCH) is a rare type of disorder characterized by an excess of Langerhans cells, which are a type of dendritic cell responsible for immune system function. These cells can accumulate in various tissues, leading to inflammation and damage in affected organs. LCH…

  • Immune Hemolytic Anemia

    Immune Hemolytic Anemia Definition and Description of Immune Hemolytic Anemia Immune Hemolytic Anemia (IHA) is a disorder characterized by the premature destruction of red blood cells (RBCs) due to an immune response. In this condition, the body mistakenly identifies its own RBCs as foreign invaders and produces antibodies against them. This leads to hemolysis—the breakdown…

  • Hyperammonemia due to Ornithine Transcarbamylase Deficiency

    Hyperammonemia due to Ornithine Transcarbamylase Deficiency Definition and Description of Hyperammonemia due to Ornithine Transcarbamylase Deficiency Hyperammonemia is a condition characterized by elevated levels of ammonia in the blood, which can lead to serious neurological issues if left untreated. One specific cause of hyperammonemia is Ornithine Transcarbamylase (OTC) deficiency. OTC is an enzyme that plays…

  • 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.…

  • HLHS

    HLHS Definition and Description of HLHS Hypoplastic Left Heart Syndrome (HLHS) is a complex congenital heart defect characterized by the underdevelopment of the left side of the heart. This condition severely affects the heart’s anatomy, impacting the left ventricle, aorta, and mitral valve. This lack of proper development leads to inadequate blood flow to the…

  • Group B Streptococcal Septicemia of the Newborn

    Group B Streptococcal Septicemia of the Newborn Definition and Description of Group B Streptococcal Septicemia of the Newborn Group B Streptococcal (GBS) septicemia of the newborn is a severe bacterial infection that occurs in infants during the first week of life. It is caused by the bacterium Streptococcus agalactiae, which can be found in the…