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

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 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

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

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

Panmyelopathy describes a collection of symptoms that result from severe spinal compression. When something compresses (squeezes) the spinal cord, it can’t function properly. That can lead to pain, loss of feeling, or difficulty moving certain parts of the body. 1. The spine encases the spinal cord — a collection of nerves that carry messages between your brain and body. 2. Usually, the bones of  Read More

Roussy-Lévy Syndrome, also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterized by incoordination, poor judgment of movements, and absence of reflexes of the lower legs and, eventually, the hands; weakness and degeneration (atrophy) of muscles of the lower legs; abnormally high arches of the fee  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