Select a specific condition below to view its details.
- Arthritic rheumatoid disease
Arthritis is a disease that affects your joints and causes pain, swelling, and stiffness. There are many different types of arthritis, but the most common type is osteoarthritis. Osteoarthritis is caused by wear and tear on the joints over time. It's more common in older people, but it can happen at any age. Osteoarthritis can also be caused by injury or repetitive stress on the joints. 1. The most common medication i Read More
- Campomelic syndrome
Campomelic syndrome is a rare birth defect that affects the development of the bones and muscles. It can affect one or both sides of the body, but it's most often seen in the lower legs. The bones in the lower leg are shorter than normal and often bowed. The foot may also be turned inward. This condition can also cause problems with muscle development and function, including weakness of the thigh muscles, hip joint problems, a Read More
- Camptomelic syndrome, long-limb type
Camptomelic syndrome, long-limb type is a rare genetic disorder that affects your child's growth and development.
The cause of camptomelic syndrome, long-limb type is unknown. Researchers believe that the condition may be related to mutations in the gene that causes cartilage development. These mutations are passed down from parents to their children through genes on chromosomes 6 and 11.
Camptomelic syndrome, long-limb type affects both males Read More
- Craniofrontonasal dysplasia
The symptoms of CFND vary greatly in number and severity among affected individuals. The most common symptoms of this disorder include widely spaced eyes (ocular hypertelorism), a vertical groove (cleft) on the tip of the nose, shoulder and limb abnormalities and/or underdevelopment of the middle portion of the face (e.g., forehead, nose, and/or chin). The head typically has an unusual shape due to premature closure of the fibrous joints (sutu Read More
- Cryoglobulinemia, essential mixed
Cryoglobulinemia, essential mixed (EM) is a disorder in which your immune system makes antibodies that are not normally found in the blood and are unable to protect you from infections. These antibodies clump together and form abnormal proteins called cryoglobulins. The risk factors for this condition include: 1. Age: People who are older than 50 years old are more likely to develop cryoglobulinemia t Read More
- Ellis van creveld syndrome
Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal. Extra fingers (polydactyly) are present in all patients with this condition and both hands are usually affected. Ectodermal abnormalities include abnormal development of hair, nails and teeth.
More than fifty percent of the patients with Ellis-Van Creveld syndrome are born with malformations of the hea 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
- Jansen metaphyseal dysostosis
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
- 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
- Marble bones
There is no cure for marble bones, but there are ways to manage the condition. The best way to manage marble bones is by getting regular exercise and eating a healthy diet. This will help you maintain a healthy weight, which can reduce the risk of fractures. If you're worried about fractures or want to prevent them, you may want to consider wearing hip protectors while playing sports or doing activiti 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
- Psoriatic arthritis
Both psoriatic arthritis and psoriasis are chronic diseases that get worse over time, but you may have periods when your symptoms improve or go into remission alternating with times when symptoms become worse.
Psoriatic arthritis can affect joints on just one side or on both sides of your body. The signs and symptoms of psoriatic arthritis often resemble those of rheumatoid arthritis. Both diseases cause joints to become painful, swoll 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
- Ulnar-mammary syndrome
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