Health > Bones, Joints & Muscles > Connective Tissue Disorders

Mucopolysaccharidoses

NINDS — Mucopolysaccharidoses (MPS) fact sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Download Adobe Reader Condensed from Mucopolysaccharidoses Fact Sheet The mucopolysaccharidoses are a group of inherited ...More…

NCI Study Finds No Conclusive Evidence that Breast ...

National Cancer Institute — The researchers used data from one of the largest studies on the long-term health effects of breast implants. A large number of patients reported CTDs, but when their records were examined by two board-certified rheumatologists, few cases were ...More…

Pseudoxanthoma elasticum

National Library of Medicine — Pseudoxanthoma elasticum is a progressive disorder that is characterized by accumulated deposits of calcium (calcification) and other minerals in elastic fibers, which are a component of connective tissue. Connective tissue provides strength and ...More…

Platyspondylic lethal skeletal dysplasia, Torrance type

National Library of Medicine — Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. People with this condition have very short arms and legs, underdeveloped pelvic bones, and unusually short fingers and toes (brachydactyly). This ...More…

What is the official name of the COL11A1 gene?

National Library of Medicine — The official name of this gene is "collagen, type XI, alpha 1." COL11A1 is the gene's official symbol. The COL11A1 gene is also known by other names, listed below. The COL11A1 gene provides instructions for making one component of type XI .. ...More…

Stickler syndrome

National Library of Medicine — Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature ...More…