Albers-Schonberg disease is a rare form of hyperimmunoglobulin E syndrome, which is characterized by inflammation in the blood vessels and the skin. The disease can cause blood vessel inflammation in your brain, heart, lungs, kidneys, and other organs. There are no medications that treat albers-schonberg disease. Instead, treatments focus on keeping the immune system under control to prevent complications. Some of  Read More

Babies with Crouzon syndrome can have symptoms like these: short and wide or long and narrow head enlarged forehead widely spaced eyes bulging eyeballs crossed eyes (strabismus) eyes that point in two different directions vision loss eyelids that slant downward flattened cheeks curved, beak-like nose small, poorly developed upper  Read More

The first signs and symptoms of CED are usually limb pain, a waddling gait, muscle weakness, and extreme tiredness. If the bones at the base of the skull are affected, the individual may experience headaches, hearing loss, vision problems, vertigo, tinnitus, and even facial paralysis. Additional musculoskeletal features include scoliosis, joint contractures, knock knees, and flat feet. The individual may also present with abnormally long limbs  Read More

The symptoms and severity of TCS can vary dramatically from one person to another, even among members of the same family. Some individuals may be so mildly affected that they can go undiagnosed; others may have significant abnormalities and the potential for life-threatening respiratory complications. It is important to note that affected individuals will not have all of the symptoms discussed below. The major characteristic features o  Read More

There is no cure for Kenny Caffey Syndrome yet, but there are some promising treatments. 1. There is a new drug that can help control the symptoms of KCS. It's called M-22, and it works by blocking the action of serotonin receptors in the brain. This helps reduce the severity of some of the symptoms, including seizures and involuntary movement. 2. Another treatment option is deep brain stimulation (DB  Read More

Kenny disease is a rare genetic disorder that causes skeletal abnormalities, such as joint stiffness, joint contractures, and muscle weakness. It also causes breathing problems, which can be life-threatening. The symptoms of Kenny-Caffey syndrome vary from person to person. Some people develop symptoms by the time they are toddlers or preschoolers; others have few symptoms until adulthood. People with  Read More

The symptoms and severity of TCS can vary dramatically from one person to another, even among members of the same family. Some individuals may be so mildly affected that they can go undiagnosed; others may have significant abnormalities and the potential for life-threatening respiratory complications. It is important to note that affected individuals will not have all of the symptoms discussed below. The major characteristic features o  Read More

Multi-Synostotic osteo dysgenesis (MSOD) is a rare skeletal disease that causes multiple areas of abnormal bone growth and development. The bones affected by MSOD are usually the long bones in the arms or legs, such as the femur, humerus, ulna, or radius. In people with MSOD, abnormal bone growth occurs during childhood and adolescence. Children with this condition often experience pain in their joints and bones.  Read More