Health and Fitness

  Klüver-Bucy Syndrome Overview Klüver-Bucy syndrome (KBS) is an extremely rare brain disorder that can cause memory loss and behavioral problems. Some people with this disease try to eat nonfood items. Others have an unusually extreme sex drive. In severe cases, symptoms include seizures and dementia. Damage to your temporal lobes, one of the major sections of your brain, causes Klüver-Bucy syndrome. This part of your brain helps you: Form new memories. Guide behavior related to food and sex. Process sensory information and emotions. Traumatic brain injury can trigger Klüver-Bucy syndrome. Other causes include neurological conditions, including herpes simplex encephalitis. Klüver-Bucy syndrome affects people of all ages. This condition doesn’t have a cure. But treatment can help reduce or reverse symptoms. Early diagnosis is important. Symptoms  The symptoms of KBS, as well as their severity, can vary from person to person. The clinical symptoms Trusted Source of KBS are: Hyp...

  Klippel-Trenaunay syndrome Overview Klippel-Trenaunay (klih-PEL tray-no-NAY) syndrome ― also called KTS ― is a rare disorder found at birth (congenital) involving problems in the development of certain blood vessels, soft tissues (such as skin and muscles), bones and sometimes the lymphatic system. The main features include a red birthmark (port-wine stain), ranging in color from pink to reddish-purple, atypical vein or lymphatic development (malformations), and overgrowth of tissues and bones. These findings most often affect one leg but may occur in an arm or elsewhere. Although there is no cure for KTS, treatment goals are to improve symptoms and prevent complications. Symptoms People who have KTS may have the following features, which can range from mild to more extensive: Port-wine stain . This pink to reddish-purple birthmark is caused by extra tiny blood vessels (capillaries) in the top layer of skin. The birthmark often covers part of one leg but can involve any portion o...

 Klippel-Feil Syndrome Overview Klippel-Feil syndrome (KFS) is a rare condition in which two or more of the bones in your neck are fused (abnormally joined) together. These bones are called cervical spine vertebrae. This can also affect other vertebrae in your spine beyond the neck region. This may involve many other parts of your body, including your heart and lungs, kidneys, mouth, eyes and ears, muscles and nerves, spinal cord and other bones. Your spine consists of 33 vertebrae. The first seven vertebrae are called your cervical vertebrae, with C1 being closest to the base of your skull, and C7 being the last vertebra in this section. KFS most commonly affects your C2 and C3 vertebrae. Normally, each vertebra is separated by intervertebral disks and cartilage, which adds a cushion between vertebrae and allows them to slide against each other. If you have KFS, some of your vertebrae stick together like a single piece of bone. The three most common physical features of KFS (you m...

  Kleine-Levin Syndrome Overview Kleine-Levin syndrome (KLS), also known as “sleeping beauty syndrome” or “familial hibernation syndrome,” is an extremely rare condition that causes intermittent episodes where you sleep for long periods of time, which prevents you from staying awake during the day (hypersomnia). KLS also affects your behavior. People diagnosed with KLS often sleep for 16 to 20 hours per day during a KLS episode. Kleine-Levin syndrome can affect anyone. Men and people assigned male at birth are more likely to have the condition. Symptoms of the condition usually start in early adolescence, and episodes of sleepiness decrease in frequency and severity over a median course of 14 years. Symptoms Symptoms usually begin in early adolescence and recur usually more than once per year. The average duration of KLS is 14 years. Symptoms include: Extreme sleepiness and inability to stay awake. Increased appetite (hyperphagia). Increased sex drive (hypersexuality). Hallucinatio...

  Kleefstra syndrome Overview Kleefstra syndrome is a rare genetic condition that affects development and involves many body systems. People with Kleefstra syndrome usually have distinct facial features, developmental delay, intellectual disability, low muscle tone (hypotonia), and communication difficulties. Kleefstra syndrome is caused by a mutation in a gene called EHMT1 or the deletion of a specific region of chromosome 9 that includes EHMT1. Other names for Kleefstra syndrome include 9q-syndrome, 9q34.3 deletion syndrome, and chromosome 9q deletion syndrome. Kleefstra syndrome is a rare genetic condition that affects multiple organ systems and has specific developmental and behavioral symptoms. Children with Kleefstra syndrome may have specific facial features including a small head size (microcephaly), a broad forehead, widely spaced eyes (hypertelorism), distinctive eyebrows and large tongue (macroglossia). Low muscle tone (hypotonia) along with a large birth weight and chil...

  Kikuchi-Fujimoto Disease    OVERVIEW Kikuchi-Fujimoto disease (KFD), also known as histiocytic necrotizing lymphadenopathy, is a rare, benign (noncancerous, nonmalignant) disorder of the lymph nodes, predominantly of young adults and school aged children. While slightly more common in females, it is also seen in males. This disorder presents with similar signs and symptoms as lymphoma, including enlarged lymph nodes (lymphadenopathy) The exact cause is not known. KFD shows up as painful swelling of lymph nodes, often in the neck, along with general symptoms like fever and fatigue. KFD is similar to a type of inflammatory response called granulomatous response. When the lymph nodes are examined under a microscope, specific changes may be seen such as tissue necrosis (cell death) and an absence of a particular type of immune cell called neutrophils. Instead, the necrotic areas mainly contain remnants of cells undergoing apoptosis, where the cell nucleus breaks down. In si...

KIF1A-Related Disorder OVERVIEW KIF1A-related disorder is a group of genetic disorders caused by one or more variations (pathogenic variants or mutations) in the KIF1A gene. Researchers have determined that different variations of this gene have been associated with different signs and symptoms, progression and severity of disease. Although different variations lead to many of the same signs and symptoms, the specific symptoms that develop, the progression of the symptoms and the overall severity can vary greatly. This is true for people in different families with the same genetic variation and members within the same family with the same variation in the KIF1A gene. The differences are based, in part, on where in the gene the variation occurs and the type of variation that occurs. KIF1A-related disorder can be inherited as an autosomal dominant condition or due to a single new (de novo) variant and, in other families, can be inherited in an autosomal recessive pattern. KIF1A-related d...

  Kernicterus Overview Kernicterus is a rare condition that affects your baby’s brain when they have too much bilirubin in their blood (hyperbilirubinemia). Bilirubin is a yellow waste product that your body makes. Sometimes, your liver can’t remove enough bilirubin to keep you healthy. Too much bilirubin can cause jaundice. This is when your skin, the whites of your eyes and your gums or the area underneath your tongue (mucous membranes) appear yellow. Symptoms of kernicterus progress in stages. In addition to jaundice, symptoms usually affect newborns and include irritability, poor feeding and seizures. Complications can lead to hearing loss and permanent brain damage. If you notice changes to your newborn’s behavior or appearance, contact their healthcare provider immediately. You may hear your healthcare provider call kernicterus “bilirubin encephalopathy.” Jaundice is common in newborns. Healthcare providers will monitor newborn jaundice to decrease your baby’s risk of develop...

 Keratosis Follicularis Spinulosa Decalvans OVERVIEW Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin disorder. KFSD is characterized by hardening of the skin (keratosis) on several parts of the body. Most frequently, the face, neck, and forearms are involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes and beard. Baldness (alopecia) usually occurs. People with KFSD may have reduced tolerance to bright light (photophobia), inflammation of the eyelids (blepharitis), and inflammation of the outer membrane of the eyeball and the inner eyelid (conjunctivitis, also known as pink eye). Some have abnormal accumulation of material in the clear outer layer of the eye (corneal dystrophy), which may cause loss of vision or blurred vision. Some may also have poor fingernail formation. Most affected families with KFSD demonstrate an X-linked recessive inheritance pattern. This form of KFSD is called X-linked keratosis follicularis spi...