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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.
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.
The majority of these tumors are solitary non-hereditary lesions and approximately 15% of osteochondromas occur as hereditary multiple exostoses preferably known as hereditary multiple osteochondromas (HMOs). [4] [7] Osteochondromas do not result from injury and the exact cause remains unknown.
Potocki–Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder. In some cases, an affected person inherits the chromosome with a deleted segment from an affected parent .
Misplacement in cartilage will result in cartilage tumor or tumors at the growth plates of long bones. This condition is known as hereditary multiple exostoses (HME) or hereditary multiple osteochondromas (HMO). [16] HME can also be the result of a mutation to the EXT1 gene or other EXT family genes. [17]
2 Bone and cartilage disorders. 3 List. Toggle List subsection. 3.1 ... use of the term can cause some confusion. ... Hereditary multiple exostoses; K. Klippel–Feil ...
For years, a man from Bangladesh lived with "tree man" syndrome.. Abul Bajandar's hands and feet grew foot-long "roots" that left him unable to feed himself, move around, work or wear normal clothing.
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 ...