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

While there is no cure for ankylosing spondylitis, there are treatments to help control symptoms and slow down the progression of the disease.1. One of the most common medications doctors prescribe for ankylosing spondylitis is methotrexate. This drug has been used for rheumatoid arthritis and other inflammatory diseases for many years. It works by inhibiting the body's immune system from attacking itself and reduc  Read More

The anterior cruciate ligament (ACL) is one of the key ligaments that help stabilize the knee joint. The ACL connects the femur to the shinbone or the tibia. Anterior cruciate ligament tear is most commonly torn during sports that involve sudden stops and changes in direction.Prompt first-aid care can reduce pain and swelling immediately after an injury to your knee. Follow the R.I.C.E. model of self-care at home:1  Read More

Polymyalgia rheumatica is a rare inflammatory disease characterized by muscle pain (myalgia), stiffness, and additional generalized systemic symptoms such as fatigue, low-grade fever, and/or a general feeling of ill health (malaise). Polymyalgia rheumatica can be a relatively benign condition that is extremely responsive to treatment. In some rare cases, permanent muscle weakness, degeneration and loss (atrophy) of muscle mass, and disability  Read More

Arthritis is a common condition that causes pain, swelling, and stiffness in the joints. It's one of the most common reasons for disability in the United States, and it affects many million people worldwide. Unfortunately, there's no cure for arthritis. But there are some treatments that can help manage symptoms and keep them under control. Here are some of your options: Medications: There are several different types available to treat arthriti  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

Children with BGS are born with premature closure of the joints or seams (sutures) of the skull. This causes an upward growth of the head giving it a pointed or cone-shaped appearance. The large bone of the forearm on the “pinky” side (ulnar) is short and curved and the short bone of the forearm on the thumb side (radius) is underdeveloped or missing. These skeletal abnormalities may be present on both sides or just one (asymmetric  Read More

Bowen Hutterite syndrome is primarily characterized by distinctive malformations of the head and facial (craniofacial) area as well as additional skeletal, genital, kidney (renal), and/or brain abnormalities. In most instances, there are abnormal growth delays before birth (intrauterine growth retardation), resulting in a low birth weight. In addition, in some cases, the fetus may be in a breech presentation, meaning that the buttocks  Read More

Simpson dysmorphia syndrome types 1 and 2 are two forms of a rare, X-linked recessive, inherited disorder characterized by unusually large fetuses (prenatal overgrowth) and unusually large babies (postnatal overgrowth). In addition, affected individuals have characteristic facial features, more than two nipples (super-numerary nipples), and multisystemic malformations that may vary from child to child. Chief among these are cardiac malformatio  Read More

Bunions facts Bunions involve boney prominences and repositioning of the joints at the base of the big toes. Bunions most commonly affect the inner foot at the base of the big toe but also can affect the outside of the foot at the base of the little toe, referred to as a bunionette or tailor's bunion. Bunions most commonly affect women. Bunions may or may not cause symptoms. Treatment of b  Read More

There are many risk factors for calcium gout, familial. If you are at risk of developing this condition, you should be aware of what these factors are so that you can prevent yourself from getting it. There are several risk factors associated with familial gout, including: 1. Family history: The first thing to know about calcium gout is that it is hereditary. This means that if one of your parents has  Read More

Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases and  Read More

Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases and  Read More

Camptomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases an  Read More

Camptomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases an  Read More

Campomelic syndrome is a rare form of skeletal dysplasia characterized by bowing and an angular shape of the long bones of the legs. Eleven sets of ribs instead of the usual twelve may be present. The pelvis and shoulder blade may be underdeveloped. The skull may be large, long and narrow. The face may appear flat with forward tilting nostrils, high forehead, small chin, and cleft palate. Babies may regurgitate formula through the nose, are su  Read More

Signs and symptoms can vary greatly. Movement and coordination problems associated with cerebral palsy may include: Variations in muscle tone, such as being either too stiff or too floppy Stiff muscles and exaggerated reflexes (spasticity) Stiff muscles with normal reflexes (rigidity) Lack of muscle coordination (ataxia) Tremors or involuntary movements Slow, writhing movements (  Read More

Early indications of mixed connective tissue disease can include: General feeling of being unwell. This malaise may be accompanied by increased fatigue and a mild fever. Cold and numb fingers or toes (Raynaud's disease). In response to cold or stress, your fingers or toes might turn white and then purplish blue. After warming, the fingers or toes turn red. Swollen fin  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

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 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

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced rang  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

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

There is no cure for dislocated ankle (ankle dislocation), but there are treatments that can help ease the pain and ensure the best recovery. 1. Rest: Resting your ankle is important to allow the bone and soft tissues to heal. A doctor will likely recommend wearing a walking boot and avoiding any weight-bearing activities until your doctor gives you the go-ahead. 2. Ice: Applying ice to your ankle may  Read More

Affected newborns may be small at birth, but otherwise appear normal. With age, other characteristics develop. For instance, chest deformities, feeding difficulties and developmental delay usually are manifest by or before 18 months. Disproportionate short stature, with the arms and legs being disproportionately too long for the torso, typically is present after 18 months. Additional clinical features that may also develop include dolichocepha  Read More

Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal developmental disorder of childhood. It is characterized by an overgrowth of cartilage on the ends (epiphyses) of the long bones of the arms and legs and the bones of the wrists (carpal bones) or the ankle (tarsal bones). The disorder may involve one epiphysis (localized) or multiple epiphyses. Most affected individuals develop a painless mass or swelling aroun  Read More

When it comes to elbow pain, the answer is a resounding "yes!" There are many things you can do to help alleviate elbow pain, and some of them are more effective than others. In this article, we'll discuss some of the most common treatments for elbow pain and how they work. Arthritis is one of the most common causes of elbow pain. This condition causes inflammation in your joints which leads to stiffness, swelling  Read More

Elephantiasis is a condition characterized by gross enlargement of an area of the body, especially the limbs. Other areas commonly affected include the external genitals. Elephantiasis is caused by obstruction of the lymphatic system, which results in the accumulation of a fluid called lymph in the affected areas. Functioning as part of the immune system, the lymphatic system helps to protect the body against infection and disease.  Read More

Elephantiasis is a condition characterized by gross enlargement of an area of the body, especially the limbs. Other areas commonly affected include the external genitals. Elephantiasis is caused by obstruction of the lymphatic system, which results in the accumulation of a fluid called lymph in the affected areas. Functioning as part of the immune system, the lymphatic system helps to protect the body against infection and disease.  Read More

Hereditary multiple osteochondromas (HMO) is a rare genetic disorder characterized by multiple benign (noncancerous) bone tumors that are covered by cartilage (osteochondromas), often on the growing end (metaphysis) of the long bones of the legs, arms, and digits. These osteochondromas usually continue to grow until shortly after puberty and may lead to bone deformities, skeletal abnormalities, short stature, nerve compression and reduced rang  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

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

Frozen shoulder, medically called adhesive capsulitis, is an inflammatory condition of the shoulder that persists for more than three months. Initially, it restricts a range of motions, especially external rotations. The advanced stages limit the movements in all directions. Frozen shoulder occurs four times more in females than in males. The non-dominant shoulder is more prone than the dominant side. Planning of treatment str  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

The first symptoms of acquired agranulocytosis are usually those associated with a bacterial infection such as general weakness, chills, fever, and/or extreme exhaustion. Symptoms that are associated with rapidly falling white blood cell levels (granulocytopenia) may include the development of infected ulcers in the mucous membranes that line the mouth, throat, and/or intestinal tract. Some people with these ulcers may experience difficulty sw  Read More

A herniated disc is a condition in which the annulus fibrosus is damaged, enabling the nucleus pulposus (which is normally located within the center of the disc) to displace and protrude off the center. It compresses the nerve or spinal and causes spinal cord dysfunction. Treatment The treatment is either surgical or non-surgical. 1. Non-surgical treatment -Non-surgical treatment is the primary a  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

HPP has remarkably wide-ranging severity. The six major clinical forms are separated based primarily upon the age when symptoms occur and the diagnosis is made. By decreasing severity, these forms are called perinatal, infantile, childhood (severe or mild), adult, and odontohypophosphatasia. Generally, HPP severity correlates with how much alkaline phosphatase activity remains in the body, with less enzyme activity causing more severe  Read More

Iliotibial band syndrome (it band syndrome) is an inflammatory disease caused by prolonged and rapid cycling of the knee through extension (straightening of the leg) and flexion. Treatment is of two types: non-operative and surgical treatment.1. Non-operative treatmentForemost, the affected person must refrain from activities that involve the knees.•Intermittent cryotherapy helps alle  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 metaphyseal dysostosis is a rare genetic disorder that affects the development of the bones in children. The disorder causes abnormal bone growth, which can lead to fractures and deformities of the bones. 1. Jansen metaphyseal dysostosis is caused by a mutation of the CDKN1A gene. The gene provides instructions for making a protein called p16-INK4a, which plays an important role in cell growth and division.  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

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

People with Kniest dysplasia are known to have an unusually short stature; short, deformed arms and legs; a chest that is “barrel-shaped” and abnormally short; and a relatively long trunk. Later in life, short trunk dwarfism develops due to curvature of the spine and enlargement of the joints. People with Kniest dysplasia have an unusually flat face with protruding eyes, and a low nasal bridge. A cleft palate may also be pr  Read More

People with Kniest dysplasia are known to have an unusually short stature; short, deformed arms and legs; a chest that is “barrel-shaped” and abnormally short; and a relatively long trunk. Later in life, short trunk dwarfism develops due to curvature of the spine and enlargement of the joints. People with Kniest dysplasia have an unusually flat face with protruding eyes, and a low nasal bridge. A cleft palate may also be pr  Read More

The exact cause of Kohler disease is unknown. It may be genetic, but it could also be caused by a viral infection or exposure to certain medications. The condition can affect multiple parts of the body, including the skull and jawbones. Kohler's disease is characterized by thick, rough skin that peels easily, leading to pain and inflammation. The skin may be discolored and feel bumpy. The hair on the scalp may bec  Read More

Kohler's disease of the tarsal navicular is a condition that causes pain in your ankle and foot. It's caused by inflammation, which can lead to arthritis. You have a tarsal navicular bone in your ankle that supports your arch when you walk. If it becomes inflamed or arthritic, it can cause pain when you walk or stand on uneven ground. It occurs when the tendons around the navicular bone become inflame  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

Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that  Read More

Signs and symptoms of acute lymphocytic leukemia may include: Bleeding from the gums Bone pain Fever Frequent infections Frequent or severe nosebleeds Lumps caused by swollen lymph nodes in and around the neck, underarm, abdomen or groin Pale skin Shortness of breath Weakness, fatigue or a general decrease in energy When to see a doc  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

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

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

Marfan syndrome is a genetic disorder that affects connective tissue, which is the material between cells of the body that gives the tissues form and strength. Connective tissue is found all over the body and multiple organ systems may be affected in individuals with Marfan syndrome. The heart and blood vessels (cardiovascular), skeletal, and eye (ocular) systems are most often affected. Major symptoms include overgrowth of the long bones of t  Read More

Most people with multiple epiphyseal dysplasia have pain in their hips and knees, which can be treated by taking pain relievers like acetaminophen or ibuprofen. Some people also have back pain, which can be treated with anti-inflammatory medications such as Motrin or Advil.If you have difficulty walking due to joint problems, you may want to consider using a cane or crutches when you're out in public so that you do  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

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

Pain located in the neck is a common medical condition. Neck pain can come from a number of disorders and diseases and can involve any of the tissues in the neck. Examples of common conditions causing neck pain are degenerative disc disease, neck strain, neck injury such as in whiplash, a herniated disc, or a pinched nerve. Neck pain can come from common infections, such as virus infection of the throat, leading to lymph node (gland) swelling  Read More

Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long  Read More

Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of ski  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

Knee pain and swelling just below the kneecap are the main indicators of Osgood-Schlatter disease. Pain usually worsens during certain activities, such as running, kneeling and jumping, and eases with rest. The condition usually occurs in just one knee, but it can affect both knees. The discomfort can last from weeks to months and can recur until your child stops growing. When to see a doctor Call your child's doctor  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

Paget's disease facts Paget's disease is a chronic bone disorder. Paget's disease frequently causes no symptoms. Paget's disease can cause pain in the bones or joints, headaches and hearing loss, pressure on nerves, increased head size, bowing of limb, or curvature of spine. Tests used to diagnose Paget's disease include X-rays, blood tests, and bone scanning. Paget's disease can lead to o  Read More

Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it is important t  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

Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about the disorder is not fully understood. Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes influencing the disorder prevent physicians from developing a complete picture of the potential associated symptoms and prognosis. Therefore, it  Read More

Conservative treatments — such as rest, ice, and physical therapy — sometimes are all that's needed to recover from a rotator cuff disease or injury. If your injury is severe, you might need surgery. 1. Therapy Physical therapy is usually one of the first treatments suggested. Exercises tailored to the specific location of your rotator cuff injury can help restore flexibility and strength to your should  Read More

Schuamann's disease or juvenile Kyphosis is a skeletal disorder where the growth of the vertebrae is uneven. The sagittal plane, or you can say the posterior angle is larger than the anterior angle. This results in the wedged shape of the vertebrae, leading to Kyphosis.The Risk Factors Of Schaumann's Disease are as follows:1. Diseases of the skeletal making (spine, spinal cord, connective tissue)2. Infe  Read More

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 the ribs, pelvis, spinal column, and/or bones in the arms. Affected individuals  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

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

Weismann-Netter-Stuhl syndrome is an extremely rare inherited 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. The primary characte  Read More

Ulnar-mammary syndrome (UMS), also known as Schinzel syndrome, is a rare genetic syndrome that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family.1. The main features of UMS include upper limb defects, including abnormal or incomplete development of the fingers and forearm, underdevelopment of the  Read More

Gorham's disease (GD) is an extremely rare bone disorder; fewer than 200 cases are reported in the medical literature. It is characterized by bone loss (osteolysis) often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.Although the disease may strike any of the bones of the body, it is more often recognized earlier  Read More

Vrolik's disease (type ii) or Osteogenesis imperfecta type II, an inherited connective tissue disorder with very severe bone fragility, the lethal form of "brittle bone disease."1. It is a recessive trait with males and females affected. Two copies of the mutant gene are needed to cause the disease. Clinically the disease is characterized by short limb dwarfism, thin skin, soft skull, unusually large fontanels soft  Read More

Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about the disorder is not fully understood. Several factors including the small number of people identified with this disorder, the lack of large clinical studies, and the underlying cause of the disorder being unknown prevent physicians from developing a complete picture of associated symptoms and prognosis. Therefore, it  Read More

Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III.All of these conditions are caused by mutations in the same gene, and in some cases, it c  Read More

Wildervanck syndrome, also known as cervicooculoacoustic syndrome, is a rare genetic disorder that primarily affects females. The disorder is characterized by a skeletal condition known as Klippel-Feil syndrome (KFS); abnormalities of certain eye (ocular) movements (i.e., Duane syndrome); and/or hearing impairment that is present at birth (congenital). In individuals with KFS, there is abnormal union or fusion of two or more bones  Read More

A skin condition called xanthoma tuberosum is where specific fats begin to build under the surface of the skin. A branched-out type of Xanthoma is Xanthoma Tuberosum. Here, Xanthoma accumulates in the areas close-by joints. It is affiliated with lipid disorders, liver cirrhosis, and some thyroid disorders.Symptoms of Xanthoma Tuberosum are as follows:1. Firm, elevated wax-like in appearance2  Read More