Dysplasia epiphysealis hemimelica, also known as Trevor disease, is a rare skeletal developmental disorder of childhood. It is characterized by an overgrowth of cartilage on the ends (epiphyses) of the long bones of the arms and legs and the bones of the wrists (carpal bones) or the ankle (tarsal bones). The disorder may involve one epiphysis (localized) or multiple epiphyses. Most affected individuals develop a painless mass or swelling aroun  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

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

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

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

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

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

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