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

Amyotrophic lateral sclerosis facts Amyotrophic lateral sclerosis is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles. Amyotrophic lateral sclerosis, or ALS, is sometimes called Lou Gehrig's disease. As many as 20,000 to 30,000 people in the United States have ALS, and an estimated 5,000 people in the United States are diag  Read More

Ankylosing spondylitis facts Ankylosing spondylitis belongs to a group of arthritis conditions that tend to cause chronic inflammation of the spine (spondyloarthropathies). Ankylosing spondylitis affects males two to three times more commonly than females. Ankylosing spondylitis is a cause of back pain in adolescents and young adults. The tendency to develop ankylosing spondylitis is genetically inh  Read More

Arthritis is a disease that affects your joints and causes pain, swelling, and stiffness. There are many different types of arthritis, but the most common type is osteoarthritis. Osteoarthritis is caused by wear and tear on the joints over time. It's more common in older people, but it can happen at any age. Osteoarthritis can also be caused by injury or repetitive stress on the joints. 1. The most common medication i  Read More

Infectious arthritis is an inflammation of one or more joints that occurs as a result of infection by bacteria, viruses or, less frequently, fungi or parasites. The symptoms of Infectious arthritis depend upon which agent has caused the infection but symptoms often include fever, chills, general weakness, and headaches, followed by inflammation and painful swelling of one or more joints of the body.Most often, the infection begins  Read More

Infectious arthritis is an inflammation of one or more joints that occurs as a result of infection by bacteria, viruses or, less frequently, fungi or parasites. The symptoms of Infectious arthritis depend upon which agent has caused the infection but symptoms often include fever, chills, general weakness, and headaches, followed by inflammation and painful swelling of one or more joints of the body.Most often, the infection begins  Read More

Campomelic syndrome is a rare birth defect that affects the development of the bones and muscles. It can affect one or both sides of the body, but it's most often seen in the lower legs. The bones in the lower leg are shorter than normal and often bowed. The foot may also be turned inward. This condition can also cause problems with muscle development and function, including weakness of the thigh muscles, hip joint problems, a  Read More

"Camptomelic syndrome is a rare genetic disorder that affects the development of certain bones in the body. It is most commonly found in children, but it can also affect adults. Camptomelic syndrome is diagnosed through a physical exam, and it can be confirmed with X-rays and/or CT scans. Camptomelic syndrome is caused by a mutation in the FGFR2 gene. This gene controls how your body grows bones, especially those of the hands and feet. When a pe  Read More

Cheney syndrome is an inherited disorder that causes abnormal growth of blood vessels and can lead to life-threatening strokes. It's caused by mutations in the FBN1 gene, which encodes for a protein called fibrillin-1. The exact cause of Cheney syndrome is unknown. However, doctors believe it may be hereditary. There is also some evidence that the condition is linked to certain medications, such as anti-inflammato  Read More

The most prominent feature of cleidocranial dysplasia is a premature closure of the two soft spots on the head (fontanels) and the fibrous joints where bones of the skull meet (sutures) causing abnormal development of the skull. Facial features typically include a prominent forehead, unusually wide face, prominent chin, small upper jaw (maxillary hypoplasia) and bulging of the skull cap. Narrow drooping shoulders caused by complete or partial  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

Freeman-Sheldon syndrome is a rare inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Craniofacial abnormalities may consist of characteristic facial features that cause the individual to appear to be whistling. These features include an extrem  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

The symptoms and physical findings of mixed cryoglobulinemia can vary greatly from one individual to another. Many different organ symptoms can be potentially become involved. Some individuals will only exhibit one manifestation of the disorder; others will exhibit symptoms of multiple organ systems. Most affected individuals develop purplish discoloration of the skin due to bleeding underneath the skin from small blood vessels (purpur  Read More

Degenerative disc disease is a condition caused by the wearing down of the discs in your spine. The discs are cushions between each vertebrae that help absorb shock and keep bones separated, but as they get older, they become less effective at doing this.Sciatica is a painful condition caused by compression of the nerve root at the lower end of your spine. This can cause pain or tingling in one or both legs, which is often worse wh  Read More

Diastrophic dysplasia, which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital). The range and severity of associated symptoms and physical findings may vary greatly from case to case. However, the disorder is often characterized by short stature and unusually short arms and legs (short-limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) in many areas o  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

Dysplasia epiphyseal hemimelica is a condition in which the epiphysis (the growing point of a bone) is larger than normal and has an uneven surface. This abnormality can cause pain and discomfort, but it's not usually serious on its own. The epiphysis is the part of your bones that grows as you get older. It's located at the end of long bones, where they connect to other bones. It's usually shaped like a cone or p  Read More

FSHD may initially involve weakness of muscles of the face, shoulder girdle and arms. Facial weakness may result in limited movements of the lips, causing difficulties whistling, using a straw, or puckering the lips. Affected individuals may also develop a distinctive “mask-like” facial appearance. Upper facial weakness may also lead to an inability to completely close the eyes during sleep. FSHD is also typically associate  Read More

Congenital fiber type disproportion (CFTD) is a rare genetic muscle disease that is usually apparent at birth (congenital myopathy). It belongs to a group of muscle conditions called the congenital myopathies that tend to affect people in a similar pattern. Major symptoms may include loss of muscle tone (hypotonia) and generalized muscle weakness. Delays in motor development are common and people with more marked muscle weakness also have abno  Read More

Flatfoot (pes planus), commonly called flat feet, is a relatively common foot deformity. A flat foot is defined by the loss of the medial longitudinal arch of the foot where it contacts or nearly contacts the ground. The arch connects the forefoot and hindfoot and is formed of elastic ligaments, tendons, and fascia. Its function is to store mechanical energy within the stretched elastic ligaments during the gait cycle. A flat  Read More

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

Frozen shoulder (adhesive capsulitis) is a condition in which the movement of the shoulder becomes difficult due to stiffness. On the basis of symptoms and medical history, medications are decided. Diagnosis: 1. Physical examination of arms and shoulders are done. 2. Moving shoulder in all direction with the help of doctor 3. Passive range of motion and active range of  Read More

Granulocytopenia primary, also known as agranulocytosis, is an immunological disorder, in which granulocyte count in the blood reduces below the normal range. Granulocytes are a family of immune cells known as white blood cells (WBCs). Treatment 1. When a person is diagnosed with the disease, any suspected medications or offending agents must be stopped. 2. In immunocompromised persons, general care, s  Read More

Hypermobility syndrome is a group of hereditary connective tissue disorders that causes skin hyperelasticity, hypermobility of joints, atrophic scarring, and fragility of blood vessels. People with hypermobile joints don’t have other symptoms, so they don’t need treatment for their condition. However, you should see a doctor if you have pain in the loose joint during or after movement, sudden cha  Read More

Ischemic necrosis of bone is a degenerative condition of the bone characterized by the death of cellular components of the bone secondary to an interruption of the subchondral blood supply. It is also known as aseptic necrosis, avascular necrosis, and osteonecrosis. It primarily affects the tips of the long bones at weight-bearing joints. The commonly affected sites are the hip, femoral head, knee, talus, and humeral head.  Read More

Jansen disease is also called Jansen type metaphyseal chondrodysplasia. It is a rare progressive disorder in which the affected individual exhibits unusually short arms and legs and thus short stature. The bulbous portions of the long bones are malformed with unusual cartilage formation due to the condition. Jansen disease is an autosomal dominant genetic disorder associated with hypercalcemia. Affected individuals also experi  Read More

Affected individuals begin to develop neurological symptoms between 20 to 50 years of age. These early symptoms include: · Weakness/cramps in arm and leg muscles (proximal > distal) · Face, mouth, and tongue muscle weakness · Difficulty with speaking and swallowing (dysphagia) · Twitching (Fasciculations) · Tremors and trembling in certain positions · Enlarged breasts (gynecomastia) ·  Read More

Knee bursitis is a condition that causes pain, swelling, and inflammation in the knee. It is caused by the buildup of fluid in the bursa, which is a fluid-filled sac that helps reduce friction between bones and joints. Medications for knee bursitis are all about reducing inflammation. 1. The first line of treatment is usually ibuprofen, which comes in pill form or as a gel that you can rub on your ski  Read More

There is no cure for Kniest chondrodystrophy, but there are some medications that can help control symptoms. The most common treatment is a drug called prednisone, which can be used to treat inflammation and swelling associated with the disease. Doctors will also often prescribe pain relievers like ibuprofen or acetaminophen to help manage symptoms like joint pain and stiffness. Treatment options include surgery,  Read More

Kohler's osteochondrosis of the tarsal navicular is a condition that causes pain in the ankle. It occurs when the articular cartilage on the top of your tarsal navicular wears away, causing inflammation and pain. The tarsal navicular bone is one of five bones in your foot. It is located at the top of your foot on the outside edge. This bone connects to your ankle bone (talus). The tarsal navicular is  Read More

Kyphosis is a condition in which the spine curves abnormally, affecting the upper back and neck. It's most common in older people, but it can occur at any age. Kyphosis can be either congenital (present from birth) or acquired. The most common cause of acquired kyphosis is osteoporosis, which causes bones to become brittle and break easily. A person with kyphosis may experience pain in the upper back, stiffness in  Read More

Several medications can be used to treat Legg-Calvé-Perthes disease (LCPD). The type of medication you will receive depends on the severity of your condition and whether you have had it for a long time. The most common LCPD medications include: 1. Pain relievers: These include acetaminophen, ibuprofen, and naproxen sodium. These medications can help you feel less pain when exercising or doing d  Read More

Lobstein disease (type I) osteogenesis imperfecta is a genetic disorder that causes bones to fracture easily. It's caused by a mutation in a gene called COL1A1. 1. The mutation causes the body to produce a defectively structured protein called collagen. Collagen helps give bones strength and flexibility. When it's defective, bones become weaker and more likely to break or deform. 2. People with Lobste  Read More

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

Marfanoid hypermobility syndrome is a genetic condition that affects the connective tissue in the body. In many ways, it resembles the more common Marfan syndrome. However, while Marfan syndrome is a rare genetic disorder that can cause serious health problems and even death, marfanoid hypermobility syndrome is much less severe—it's estimated that fewer than 1% of people with Marfan syndrome actually have this condition.  Read More

The specific signs and symptoms of these disorders can vary from one person to another, even among those with the same subtype. Onset is usually in early childhood. Pain in the hips and knees following exercise is usually the initial sign of these disorders. Affected children may fatigue easily. Some affected children develop a waddling manner of walking (abnormal gait). Growth deficiency occurs in childhood and some children may be short for  Read More

There is no cure for multiple osteochondromatosis, but There are many medications that can be used to treat multiple osteochondromatosis, but it is important to speak with your doctor about what is right for you. Here are some of the most common medications: 1. Pain relievers: These include acetaminophen (Tylenol) and nonsteroidal anti-inflammatory drugs such as ibuprofen (Advil). 2. Immunosuppressant  Read More

Ollier osteochondromatosis is a condition that affects the bones and joints of the body. It causes the bones to grow abnormally, and can lead to problems with mobility and pain. The severity of Ollier's disease varies from person to person, but there are some risk factors that can increase your chances of developing it. The exact cause of Ollier's disease is unknown. However, there are some risk factors that may i  Read More

Osgood-Schlatter condition is a common knee injury in young athletes. It's caused by an irritation of the tibial tubercle, the bump on the lower end of your thigh bone where it meets your knee. In most cases, this bump becomes inflamed and tender when you put weight on it during sports or other activities. The pain can be severe enough to keep you from playing sports or doing other things that make use of your kne  Read More

Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displ  Read More

Catel-Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; and, in some cases, additional physical findings. Pierre Robin syndrome refers to a sequence of abnormalities that may occur as a distinct syndrome or as part of another underlying disorder. Pierre Robin syndrome is characterized by an unusually small jaw (micrognathia), downward displ  Read More

The signs and symptoms of polymyalgia rheumatica usually occur on both sides of the body and might include: Aches or pain in your shoulders Aches or pain in your neck, upper arms, buttocks, hips or thighs Stiffness in affected areas, particularly in the morning or after being inactive for a time Limited range of motion in affected areas Pain or stiffness in your wrists, elbows or knees  Read More

Infectious arthritis is an inflammation of one or more joints that occurs as a result of infection by bacteria, viruses or, less frequently, fungi or parasites. The symptoms of Infectious arthritis depend upon which agent has caused the infection but symptoms often include fever, chills, general weakness, and headaches, followed by inflammation and painful swelling of one or more joints of the body.Most often, the infection begins  Read More

Skeletal dysplasia, weismann netter stuhl, commonly known as Weismann-Netter-Stuhl syndrome, is an extremely rare genetic skeletal disorder characterized by the abnormal development of bone (osseousbo dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and the outer, smaller bone of the leg below the knee (fibula). In some individuals, other bones may also be affected, such as  Read More

Spondyloepimetaphyseal dysplasias (SEMD) are a heterogeneous group of chondrodysplasias, characterized by different patterns of inheritance. Different subtypes of SEMD are reported in genetic medical databases and literature. The Smith-McCort variant syndrome (SMS) or smith-mccort dysplasia is one of the subtypes of SEMD (subtype II). 1. SMS is a rare autosomal recessive osteochondrodysplasia characterized by shor  Read More

Spinal muscular atrophy type 3 is an inherited progressive neurodegenerative disease. SMA is caused by alterations (mutations) in the genes that make proteins needed to support motor neuron function. The degree of genetic involvement determines what type of SMA you have as well as the severity of symptoms.1 Since SMA is a genetic condition, there are no specific lifestyle factors known to cause or prevent it.  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

Three M syndrome is an extremely rare genetic disorder characterized by low birth weight, short stature (dwarfism), characteristic abnormalities of the head and facial (craniofacial) area, distinctive skeletal malformations, and/or other physical abnormalities. Characteristic craniofacial malformations typically include a long, narrow head (dolichocephaly), an unusually prominent forehead (frontal bossing), and a triangular-shaped face with a  Read More

Weismann-Netter syndrome is an extremely rare genetic skeletal disorder characterized by the abnormal development of bone (osseous dysplasia). Affected individuals exhibit bowing of the long portions (shafts) of the shinbone (tibia) and the outer, smaller bone of the leg below the knee (fibula). In some individuals, other bones may also be affected, such as the ribs, pelvis, spinal column, and/or bones in the arms. Affected in  Read More

Patients with ZARD can have multiple disabilities and health concerns. These can include orthopedic and musculoskeletal conditions and neurological/neuromuscular conditions. The most common clinical features include: • arthrogryposis multiplex congenita (multiple joint contractures before birth that involve at least two different body areas; sometimes caused by decreased fetal movement) • joint and soft-tissue abnormalities o  Read More