The following Conditions are related to U
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- Albers-schonberg disease
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
- Albright syndrome
The range of severity of McCune-Albright syndrome is broad: some children are diagnosed in early infancy with obvious anomalies of bone and increased hormone production by one or more of the endocrine glands; others show no evidence of bone, skin or endocrine malfunction in childhood and may enter puberty at an appropriate age. The degree of severity of individual symptoms may also vary greatly. Therefore, it is important to note that affected Read More
- Amyotrophic lateral sclerosis
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
- Anencephaly
Anencephaly facts Anencephaly is an example of a neural tube defect, a condition that results from an error in the first weeks of embryonic development. In anencephaly, the bones of the skull and brain do not develop properly. Babies with anencephaly are missing large areas of the brain and have an incomplete skull. Anencephaly affects about 1 out of every 1,000 pregnancies, but most cases end up as miscarria Read More
- Ankylosing spondylitis
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
- Anterior cruciate ligament tear
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
- Antley bixler syndrome
Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For example, the disorder is typically associated with premature closure of the fibrous joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdevelop Read More
- Arthritic rheumatoid disease
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 quackery (unproven remedies and tests)
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
- Arthritis, infectious
Infectious arthritis can be caused by several different types of bacteria, viruses and fungi. The most common cause of infectious arthritis is gonorrhea (also known as ""the clap""), which usually affects people who have had unprotected sex with an infected partner. However, there are other types of bacteria that can cause infections in joints as well. Arthritis medications for arthritis include over-the-counter p Read More
- Arthritis, juvenile rheumatoid
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
- Bacterial arthritis
There is no cure for bacterial arthritis, but you can take certain medications to reduce the symptoms. 1. If you have bacterial arthritis, your doctor will prescribe antibiotics to help get rid of the bacteria and reduce inflammation. The most common antibiotic used for bacterial arthritis is doxycycline. It's usually taken twice a day for two to four weeks. 2. You may also want to try over-the-counte Read More
- Baller gerold syndrome
Baller-Gerold Syndrome is a rare genetic disorder that is apparent at birth (congenital). The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) area and bones of the forearms and hands. In infants with Baller-Gerold Syndrome, there is premature fusion of the fibrous joints (cranial sutures) between certain bones in the skull (craniosynostosis). As a result, the head may appear unusually s Read More
- Bone spurs (osteophytes)
Bone spur facts A bone spur (osteophyte) is a tiny pointed outgrowth of bone. Bone spurs are usually caused by local inflammation, such as from degenerative arthritis or tendonitis. Bone spurs develop in areas of inflammation or injury of nearby cartilage or tendons. Bone spurs may or may not cause symptoms. When they do cause symptoms, the symptoms depend on their location. Bone spurs can Read More
- Bowen hutterite syndrome
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
- Bulldog syndrome
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 (hallux valgus)
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
- Calcium gout, familial
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
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
- Campomelic syndrome, long-limb type
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
- Camptodactyly-cleft palate-clubfoot
Gordon syndrome is an extremely rare disorder that belongs to a group of genetic disorders known as the distal arthrogryposes. These disorders typically involve stiffness and impaired mobility of certain joints of the lower arms and legs (distal extremities) including the knees, elbows, wrists, and/or ankles. These joints tend to be permanently fixed in a bent or flexed position (contractures). Gordon syndrome is characterized by the permanent Read More
- Camptomelic dwarfism
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
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
- Camptomelic syndrome, long-limb type
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
- Cerebral palsy
Cerebral palsy facts Cerebral palsy (CP) is an abnormality of motor function, the ability to move and control movements. Cerebral palsy is acquired at an early age, usually less than a year of age. Cerebral palsy is due to a brain abnormality that does not progress in severity. The causes of cerebral palsy include prematurity, genetic disorders, strokes, and infection of the brain. Taking Read More
- Cheney syndrome
Hajdu-Cheney syndrome (HCS) is a rare, heritable disorder of connective tissue; only about 50 cases have been reported in the medical literature. The breakdown of bone (osteolysis), especially the outermost bones of the fingers and toes (acroosteolysis), is a major characteristic of HCS. In addition, patients with HCS frequently have skull deformities, short stature, joint laxity, reduction of bone mass (osteoporosis) and other sig Read More
- Cleidocranial dysostosis
Cleidocranial dysplasia is a rare skeletal dysplasia characterized by short stature, distinctive facial features and narrow, sloping shoulders caused by defective or absent collarbones (clavicles). Major symptoms may include premature closing of the soft spot on the head (coronal), delayed closure of the space between the bones of the skull (fontanels), narrow and abnormally shaped pelvic and pubic bones and deformations in the chest (thoracic Read More
- Connective tissue disease
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
- Craniocarpotarsal dystrophy (dysplasia)
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
- Craniofacial dysostosis
Crouzon syndrome is a rare genetic disorder that may be evident at birth (congenital) or during infancy. The disorder is characterized by distinctive malformations of the skull and facial (craniofacial) region. Such abnormalities may vary greatly in range and severity from case to case, including among affected family members. However, in most infants with Crouzon syndrome, the fibrous joints between certain bones of the skull (cranial sutures Read More
- Craniofrontonasal dysplasia
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
- Cryoglobulinemia, essential mixed
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 and sciatica
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
- Diamond-blackfan anemia
Blackfan-Diamond anemia (BDA) is a rare blood disorder that is caused by a failure of the bone marrow to generate enough red blood cells. It is characterized by deficiency of red blood cells at birth (congenital hypoplastic anemia) as well as slow growth, abnormal weakness and fatigue, paleness of the skin, characteristic facial abnormalities, protruding shoulder blades (scapulae), webbing or abnormal shortening of the neck due to fusion of ce Read More
- Diaphyseal aclasis
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
- Diaphyseal dysplasia camurati-engelmann
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 dwarfism
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
- Diastrophic nanism syndrome
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
- Dislocated ankle (ankle dislocation)
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
- Dmc syndrome
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
- Dyschondrosteosis
Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna (Madelung deformity), unusually short lower legs, and associated short stature (mesomelic dwarfism). Affected individuals may also exhibit abnormalities of the large Read More
- Dyskeratosis congenita syndrome
Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that Read More
- Dysplasia epiphyseal hemimelica
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
- Ekman-lobstein disease
There are four distinct genes that control collagen synthesis. In individuals with OI, some or all of these genes may be impacted with ekman-lobstein disease. Type 1 OI through type 8 OI are the eight subtypes of brittle bone disease that can result from defective genes. The four primary OI categories are as follows: 1. The most prevalent and mildest form of brittle bone disease is type 1 OI. Your body creates hig Read More
- Elbow pain
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
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
- Elephantitis
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
- Enchondromatosis
Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp. The pelvis is sometimes Read More
- Erb-duchenne paralysis
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
- External chondromatosis syndrome
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
- Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy, is a neuromuscular disorder. Symptom onset usually occurs in adolescence or early adulthood; however, less commonly, symptoms may become apparent as early as infancy or early childhood.The disorder is typically initially characterized by weakness of facial, shoulder, and/or upper arm muscles. Associated abnormalities may include an im Read More
- Fiber type disproportion, congenital
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)
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
- Franceschetti-zwalen-klein syndrome
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
Frozen shoulder facts Frozen shoulder is the result of scarring, thickening, and shrinkage of the joint capsule. Any injury to the shoulder can lead to a frozen shoulder. A frozen shoulder is usually diagnosed during an examination. A frozen shoulder usually requires aggressive treatment. What is a frozen shoulder? A frozen shoulder is a shoulder joint with significant loss o Read More
- Frozen shoulder (adhesive capsulitis)
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
Acquired agranulocytosis is a rare, drug-induced blood disorder that is characterized by a severe reduction in the number of white blood cells (granulocytes) in the circulating blood. The name granulocyte refers to grain-like bodies within the cell. Granulocytes include basophils, eosinophils, and neutrophils. Acquired agranulocytosis may be caused by a variety of drugs. However, among the drugs to which a patient may be sensitive Read More
- Herniated disc
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
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
- Hypophosphatasia (hhrh)
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
- Ischemic necrosis of bone
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
In Jansen type metaphyseal chondrodysplasia, an extremely rare progressive disorder, portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), findings th Read More
- Jansen metaphyseal dysostosis
In Jansen type metaphyseal chondrodysplasia, an extremely rare progressive disorder, portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), findings th Read More
- Jansen type metaphyseal chondrodysplasia
In Jansen type metaphyseal chondrodysplasia, an extremely rare progressive disorder, portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), findings th Read More
- Juxta-articular adiposis dolorosa
Dercum's disease is an extremely rare disorder characterized by multiple, painful growths consisting of fatty tissue (lipomas). These growths mainly occur on the trunk, the upper arms and upper legs and are found just below the skin (subcutaneously). Pain associated with Dercum's disease can often be severe. Pain may be caused by these growths pressing on nearby nerves. Dercum's disease mainly occurs in adults and more women are affected than Read More
- Kenny caffey syndrome
KSC2 is present at birth (congenital) and low birth weight may be one of the first symptoms. This extremely rare genetic disorder is characterized by abnormalities affecting the skeleton, the head, and the eyes. Recurrent episodes of unusually low levels of calcium (hypocalcemia) in the blood are common. Most affected individuals, exhibit short stature of adult height ranging from 48 to 59 inches. Intelligence is usually normal. KCS2 u Read More
- Kenny disease
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
- Klippel-feil syndrome
KFS is a rare skeletal condition in which there is abnormal union or fusion (congenital synostosis) of two or more bones (vertebrae) within the neck. The spinal column or backbone is made up of 33 irregularly-shaped bones known as vertebrae. These bones are divided into different categories. The first seven vertebrae, beginning at the base of the skull, are known as the cervical vertebrae. KFS primarily affects the cervical vertebrae. Read More
- Knee bursitis
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
- Knee injury
There's no cure for a knee injury, but there are many things you can do to help manage your symptoms, including: 1. Rest and Ice The first line of defense for any knee injury is to rest the joint, and reduce inflammation. Use ice packs or a bag of frozen peas wrapped in a towel to reduce swelling and ease the pain. 2. Stretch It Out A lot of people don't realize that stretchi Read More
- Knee pain
Knee pain can be debilitating, especially when it prevents you from doing the activities you enjoy. Fortunately, there are many medications that can help relieve your knee pain and get back to your life. 1. Ibuprofen: Ibuprofen is a non-steroidal anti-inflammatory drug (NSAID) that works by reducing inflammation and swelling in the body. It's commonly used to treat back pain and arthritis, but can also help with k Read More
- Kniest chondrodystrophy
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
- Kniest dysplasia
Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential for the normal development of bones and other connective tissue. Changes in the composition of type 2 collagen lead to abnormal skeletal growth and, thus, to a variety of dwarfing conditions known as skeletal dysplasia Read More
- Kniest syndrome
Kniest dysplasia is one of several forms of dwarfism that is caused by a change (mutation) in a gene known as COL2A1. This gene is involved in the production of a particular protein that forms type 2 collagen, which is essential for the normal development of bones and other connective tissue. Changes in the composition of type 2 collagen lead to abnormal skeletal growth and, thus, to a variety of dwarfing conditions known as skeletal dysplasia Read More
- Kohler disease
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
Kohler disease is a rare bone disorder of the foot in children that may be the result of stress-related compression at a critical time during the period of growth. It is characterized by limping caused by pain and swelling in the foot. It most often occurs in children between the ages of three and seven, and it affects males five times more often than it does females. Typically, just one foot is affected.Children appear to grow out Read More
- Kohler's osteochondrosis of the tarsal navicular
Kohler disease is a rare bone disorder of the foot in children that may be the result of stress-related compression at a critical time during the period of growth. It is characterized by limping caused by pain and swelling in the foot. It most often occurs in children between the ages of three and seven, and it affects males five times more often than it does females. Typically, just one foot is affected.Children appear to grow out Read More
- Kyphosis
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
- Lcpd
Legg-Calvé-Perthes Disease (LCPD) is one of a group of disorders known as the Osteochondroses. The Osteochondroses typically are characterized by degeneration (avascular necrosis) and subsequent regeneration of the growing end of a bone (epiphyses). In Legg-Calvé-Perthes Disease, the growing end (epiphysis) of the upper portion (capital) of the thigh bone (femur) is affected. Researchers believe that an unexplained interruption o Read More
- Le jeune syndrome
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
- Leukemia
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)
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
- Lobster claw deformity
Symptom presentation varies from person to person. Most people with SHFM have fewer than five fingers or toes on a hand or foot (oligodactyly). A smaller proportion of individuals affected by SFHM have finger fusing (syndactyly) of multiple fingers on the hands. This is often referred to as the “lobster claw” variety where the third digit is absent and replaced with a cone-shaped cleft that tapers in toward the wrist and divides th Read More
- Mandibulofacial dysostosis
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
- Marble bones
Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. Although symptoms may not initially be apparent in people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone. There are three major types of osteopetrosis: the malignant infantile form, the intermediate for Read More
- Marfanoid hypermobility syndrome
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
- Mps disorder type vii
Mucopolysaccharidoses, which are also known as mucopolysaccharide storage (MPS) diseases, are a group of rare genetic disorders caused by the deficiency of one of ten specific lysosomal enzymes. The lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates (mucopolysaccharides) into simpler molecules. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body causes a n Read More
- Multiple cartilaginous exostoses
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
- Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia (MED) is a rare inherited spectrum of disorders characterized by malformation (dysplasia) of the "growing portion" or head of the long bones (epiphyses). Affected individuals may have an abnormally short thighbone (femur), unusually short hands and fingers, mild short stature, a waddling gait, and/or pain in the hips and knees. In some cases, painful swelling and inflammation of certain joints (arthritis) may be p Read More
- Multiple osteochondromatosis
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
- Multisynostotic osteodysgenesis
Antley-Bixler Syndrome is a rare genetic disorder that is primarily characterized by distinctive malformations of the head and facial (craniofacial) area and additional skeletal abnormalities. For example, the disorder is typically associated with premature closure of the fibrous joints (cranial sutures) between particular bones of the skull (craniosynostosis). Many affected infants and children also may have a prominent forehead, underdevelop Read More
- Neck pain (cervical pain)
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
- Occult spinal dysraphism sequence
The specific symptoms, severity and progression of tethered cord syndrome vary from one individual to another. In most cases, individuals experience symptoms during childhood. In some cases, symptoms are stabilized in childhood, but become apparent only in adulthood. A high percentage of pediatric cases, with tethered cord syndrome show cutaneous tufts of hair, skin tags, dimples, benign fatty tumors, skin discoloration or hemangiomas. Read More
- Ollier disease
Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp. The pelvis is sometimes Read More
- Ollier osteochondromatosis
Ollier disease is not always apparent at birth, but symptoms will usually become evident by early childhood. Between the ages of one and four years, abnormal and/or slow growth of arms and legs is often observed. Usually one leg and/or arm is affected, but both legs and/or arms may be involved. If both legs are involved, short stature may result; if only one leg is involved, then an affected individual may limp. The pelvis is sometimes Read More
- Onychoosteodysplasia
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
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
- Osteoarthritis
Osteoarthritis symptoms often develop slowly and worsen over time. Signs and symptoms of osteoarthritis include: Pain. Your joint may hurt during or after movement. Tenderness. Your joint may feel tender when you apply light pressure to it. Stiffness. Joint stiffness may be most noticeable when you wake up in the morning or after a period of inactivity. Read More
- Osteoporosis
Osteoporosis facts Osteoporosis is a condition of fragile bone with an increased susceptibility to fracture. Osteoporosis weakens bone and increases risk of bones breaking. Bone mass (bone density) decreases after 35 years of age, and bone loss occurs more rapidly in women after menopause. Key risk factors for osteoporosis include genetics, lack of exercise, lack of calcium and vitamin D, personal h Read More
- Paget's disease of bone
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
- Panmyelopathy
Acquired aplastic anemia is a rare disorder caused by profound, almost complete bone marrow failure. Bone marrow is the spongy substance found in the center of the bones of the body, in adults mainly the spine, pelvis, and large bones of the legs. The bone marrow produces specialized cells (hematopoietic stem cells) that grow and eventually develop into red blood cells (erythrocytes), white blood cells (leukocytes), and platelets. In acquired Read More
- Pierre robin syndrome
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
- Pierre robin syndrome with hyperphalangy
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
- Polymyalgia rheumatica
Polymyalgia rheumatica and giant cell arteritis facts Polymyalgia rheumatica causes pain and stiffness in muscles and joints. Polymyalgia rheumatica is diagnosed by characteristic symptoms associated with abnormal blood testing for inflammation. Polymyalgia rheumatica is treated with low doses of cortisone medications. Giant cell arteritis is a result of inflammation of arteries. Giant cel Read More
- Pyknodysostosis
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
- Rotator cuff disease
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
- Roussy levy syndrome
Symptoms of Roussy-Lévy Syndrome are similar to other hereditary motor sensory neuropathies in that there is weakness and atrophy of the leg muscles with some loss of feeling. People with this syndrome have difficulty walking and a lack of reflexes and deformity of the foot or feet (pes cavus). Roussy-Lévy differs, however, from other hereditary motor sensory neuropathies because of the very early onset of the disorder during chi Read More
- Scapuloperoneal syndrome, myopathic type
Symptoms of scapuloperoneal myopathy primarily include muscle weakness and wasting usually limited to muscles in the shoulder blade and girdle area and the legs below the knees. This disorder can begin in childhood or adulthood. The progression rate and severity may vary greatly, with some cases progressing more quickly than others. In most cases, the progression is slow. The shoulder muscles are affected first, in most cases. In some Read More
- Schaumann's disease
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
- Short stature-onychodysplasia
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism including. dolichocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or post pubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fin Read More
- Skeletal dysplasia, weismann netter stuhl
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
- Smith-mccort dysplasia
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
- Spastic spinal familial paralysis
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
- Spinal muscular atrophy type 3
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
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
Three M syndrome is an extremely rare inherited disorder characterized by low birth weight, delayed bone age, and short stature; characteristic malformations of the head and facial (craniofacial) area; and/or finger (digital) and/or skeletal malformations. In most cases, infants with Three M syndrome are unusually small and have a low birth weight despite being carried to term. This is due to growth delays during fetal development (int Read More
- Toxopachyosteose
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
- Ulnar-mammary syndrome
Schinzel syndrome, also known as ulnar-mammary syndrome, is a rare inherited disorder characterized by abnormalities of the bones of the hands and forearms in association with underdevelopment (hypoplasia) and dysfunction of certain sweat (apocrine) glands and/or the breasts (mammary glands). Abnormalities affecting the hands and/or forearms range from underdevelopment of the bone in the tip of the fifth finger (hypoplastic terminal phalanx) t Read More
- Valgus calcaneus
The valgus calcaneus is one of the most common foot deformities in children (problem with the shape of the foot) wherein the foot points upward and outward. In extreme cases, the top of the foot touches the front of the lower leg. Calcaneovalgus causes the baby no pain and often goes away on its own.Signs and symptoms:1. The condition is congenital, meaning your child was born with it. It may affect one or bo Read More
- Vrolik disease (type ii)
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
- Weismann-netter syndrome
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
- Weissenbacher-zweymuller syndrome
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
- Wieacker syndrome
Wieacker syndrome is a rare, slowly progressive, genetic disorder characterized by deformities of the joints of the feet (contracture), muscle degeneration (atrophy), mild mental retardation and an impaired ability to move certain muscles of the eyes, face and tongue. Wieacker syndrome is inherited as an X-linked recessive trait. Read More
- Wildervanck syndrome
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
- X-linked hypophosphatemia (xlh)
Many people with mild hypophosphatemia don’t have symptoms. Symptoms may not appear until your phosphate levels drop very low. When symptoms do occur, they can include: muscle weakness fatigue bone pain bone fractures appetite loss irritability numbness confusion slowed growth and shorter than normal height in children tooth d Read More
- Xanthoma tuberosum
Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or broad beta disease, is a rare genetic disorder characterized by improper breakdown (metabolism) of certain fatty materials known as lipids, specifically cholesterol and triglycerides. This results in the abnormal accumulation of lipids in the body (hyperlipidemia). Affected individuals may develop multiple yellowish, lipid-filled bumps (papules) or plaques on the skin (xant Read More