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

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

Hereditary multiple osteochondromas is a rare disorder that affects bone growth. Bony tumors (exostoses or osteochondromas), covered with cartilage, typically appear in the growth zones (metaphyses) of the long bones adjacent to the areas where tendon and muscles attach to the bone. These growths vary in size and number among affected individuals, even within the same family. Some individuals will present with a few large “lumps” w  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

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

Ollier osteochondromatosis is a condition that affects the bones and joints of the body. It causes the bones to grow abnormally, and can lead to problems with mobility and pain. The severity of Ollier's disease varies from person to person, but there are some risk factors that can increase your chances of developing it. The exact cause of Ollier's disease is unknown. However, there are some risk factors that may i  Read More

Tarsomegaly is induced mostly in dysplasia epiphysealis hemmeletica. "Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterized by osteochondromas arising from the epiphyses.This disorder is rare and is characterized by an asymmetrical limb deformity due to localized overgrowth of cartilage, histologically resembling osteochondroma. It is bel  Read More