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Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones.
Maffucci syndrome is a very rare disorder in which multiple benign tumors of cartilage develop within the bones (such tumors are known as enchondromas). [1] The tumors most commonly appear in the bones of the hands, feet, and limbs, causing bone deformities and short limbs.
Hereditary multiple exostoses (HME), also called hereditary multiple osteochondromas (HMO), is a condition that is estimated to affect 1 in 50,000 individuals. Multiple benign or noncancerous bone tumors develop in the affected individuals. The number and location vary among affected patients.
Familial multiple lipomatosis is a hereditary adipose tissue disorder that is characterized by the formation of multiple lipomas that occur in a particular distribution. [1] The lipomas are well-encapsulated, slow-growing, benign fatty tumors.
Metachondromatosis is inherited in an autosomal dominant manner, needing only one copy of the defective gene to cause the disorder. [2] The cause of the disorder has been linked to an 11 base pair deletion in exon four of the PTPN11 gene [2] (12q24.13). [10] This deletion causes a frameshift, resulting in a nonsense mutation with a premature ...
It is characterized by a deficiency in biliary copper excretion that causes deformations in the skeleton.These include projections on the back of the skull (parasagittal bone exostoses arising from the occipital bone—the so-called "occipital horns") as well as deformities of the elbow, radial head dislocation, hammer-shaped lateral ends of the clavicles, and abnormalities of the hips and ...
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Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.