Osteopetrosis is characterized by overly dense bones throughout the body. Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw. Osteopetrosis, Autosomal Recessive; Malignant Infantile Type The most severe type of osteopetrosis, malignant infantile type,  Read More

There is no cure for juvenile rheumatoid arthritis, but there are medications that can help treat the symptoms. 1. The first step in treating juvenile rheumatoid arthritis is to control the inflammation that occurs in the joints. 2. Your doctor may prescribe a nonsteroidal anti-inflammatory drug (NSAID) like ibuprofen or naproxen or a corticosteroid like prednisone. These drugs are designed to reduce  Read More

Bunions (hallux valgus), commonly known as bunions, is a complex deformity of the first ray of the forefoot. The underlying etiology is not fully understood. It is more common in women than men and is common in those who wear tight shoes or heels. Treatments are of two types: conservative therapy and surgical treatments 1. Conservative therapy It involves nonsurgical and trial-based methods. The techni  Read More

There is no cure for connective tissue disease, but there are medications that can help treat symptoms. The first step in treating any type of connective tissue disease is to see your doctor and get a diagnosis. From there, you'll start working with them to find the right treatment plan for your specific condition. That might mean taking medications like steroids or nonsteroidal anti-inflammatory drugs (NSAIDs) to  Read More

Craniofrontonasal dysplasia is a rare genetic disorder that affects the development of the skull, face, and nasal passages. It can also cause other problems like hearing loss. The exact cause of craniofrontonasal dysplasia is unknown, but it's believed to be due to a combination of genes that may be inherited from your parents. There are several risk factors for craniofrontonasal dysplasia:  Read More

Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in three of eight siblings where the father was the mother's paternal uncle. Because of physical appearance and the present of acid mucopolysaccharides in the urine, Dyggve believed that their affected pat  Read More

Brachial plexus palsy, also known as Erb's palsy, is a paralysis or weakness of the arm caused by an injury to one or more nerves that control and supply the muscles of the shoulder and upper extremities (upper brachial plexus). It is more commonly seen in newborns (neonates) and is often the result of a difficult delivery. When it occurs in adults, the cause typically is an injury that has caused stretching, tearing or other trauma to the bra  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

Osteopetrosis is characterized by overly dense bones throughout the body. Symptoms include fractures, low blood cell production, and loss of cranial nerve function causing blindness, deafness, and/or facial nerve paralysis. Affected individuals may experience frequent infections of teeth and the bone in the jaw. Osteopetrosis, Autosomal Recessive; Malignant Infantile Type The most severe type of osteopetrosis, malignant infantile type,  Read More

Although osteoarthritis has no known cure, it does not always get worse with time. 1. There are several treatments available to help with symptom relief. The major therapies for osteoarthritis symptoms include lifestyle changes, such as exercising frequently and maintaining a healthy weight. 2. Lifestyle changes, such as eating healthfully and exercising frequently, medicine to alleviate your pain, and suppo  Read More

Symptoms describe an individual’s experience of a medical disorder. Signs are the objective evidence of the disorder, documented, for example by physician examination, laboratory studies, or magnetic resonance images (MRI). The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means  Read More

Tennis elbow is a type of tendinitis -- swelling of the tendons -- that causes pain in the elbow and arm. These tendons are bands of tough tissue that connect the muscles of your lower arm to the bone. Types of treatment that help are: 1. Icing the elbow to reduce pain and swelling. Experts recommend doing it for 20 to 30 minutes every 3 to 4 hours for 2 to 3 days or until the pain is gone. 2. Using an elbow  Read More