Health and Fitness

Cold urticaria Overview Cold urticaria (ur-tih-KAR-e-uh) is a reaction that appears within minutes after skin is exposed to the cold. Itchy welts, also called hives, arise on affected skin. Symptoms in people with cold urticaria can range from minor to serious. For some people with this condition, swimming in cold water could lead to low blood pressure, fainting or shock. Cold urticaria occurs most often in young adults. If you think you have this condition, check in with your healthcare team. Treatment usually includes steps to keep cold urticaria from happening, such as taking antihistamines and staying away from cold air and water. Symptoms Cold urticaria symptoms may include: Temporary itchy welts, also called hives, on the area of skin exposed to cold. A response that worsens as the skin warms. Swelling of the hands while holding cold objects. Swelling of the lips from eating cold food or drinking cold beverages. Serious responses may include: A whole-body reaction, also known as ...

Cockayne Syndrome Overview Cockayne syndrome is a rare inherited disorder that causes: Premature aging (progeria). Sensitivity to light. Short stature (dwarfism). Progressive dementia. What are the different types of Cockayne syndrome? There are three types: Type 1 (classic): Symptoms appear after a child is a year old and worsen with time. Type 2 (congenital): Symptoms are present at birth. This is the most severe type. Type 3: Symptoms are mild and appear later in life. This type is rare. How common is Cockayne syndrome? Cockayne syndrome occurs in approximately 2 to 3 per million newborns in the United States and Europe. What are the symptoms of Cockayne syndrome? Cockayne syndrome causes a broad range of symptoms affecting: Eyes Abnormal retina coloring. Clouding of the eye lens (cataracts). Crossed eyes (strabismus). Eyelids that do not fully close. Farsightedness. Lack of tears. Nerve fibers that waste away (optic atrophy). Retina degeneration. Small eyes (microphthalmia). Sunk...

Chst3 related disorder (sed- Omani) Overview CHST3-related skeletal dysplasia, sometimes referred to as SED-Omani type or Spondyloepiphyseal dysplasia with congenital joint dislocations, is a genetic disorder characterized by bone and joint abnormalities. It is caused by mutations in the CHST3 gene, which encodes an enzyme involved in cartilage development. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.  Symptoms Short Stature:  Individuals with this disorder typically have a short stature, with adults often being under 4.5 feet tall.  Joint Dislocations:  Congenital joint dislocations, particularly of the knees, hips, and elbows, are a hallmark of the condition.  Clubfeet:  An inward- or upward-turning foot (clubfoot) is also a common feature.  Limited Range of Motion:  Affected individuals may experience a reduced range of motion in larg...

Charcot-Marie-Tooth disease Overview Charcot (shahr-KOH)-Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in the arms and legs (peripheral nerves). Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy. Charcot-Marie-Tooth disease results in smaller, weaker muscles. You may also experience loss of sensation and muscle contractions, and difficulty walking. Foot deformities such as hammertoes and high arches also are common. Symptoms usually begin in the feet and legs, but they may eventually affect your hands and arms. Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood, but may also develop in midlife. Symptoms Signs and symptoms of Charcot-Marie-Tooth disease may include: Weakness in your legs, ankles and feet Loss of muscle bulk in your legs and feet High foot arches Curled toes (hammertoes) Decreased ability to run Difficulty lifting your foot at the ankle (footdro...