diaphysial aclasis

Diaphysial aclasis, also known as HEREDITARY MULTIPLE EXOSTOSES, is an AUTOSOMAL DOMINANT skeletal disorder caused mainly by GENETIC MUTATIONS in the EXT1 GENE or EXT2 GENE. It affects normal ENDOCHONDRAL OSSIFICATION and results in the development of multiple cartilage-covered bony projections called OSTEOCHONDROMAS, usually arising from the METAPHYSIS of LONG BONES near the EPIPHYSEAL GROWTH PLATE. These abnormal growths may cause BONE DEFORMITIES, limb length differences, restricted joint movement, nerve or blood vessel compression, and rarely transformation into CHONDROSARCOMA. Diagnosis is commonly performed using RADIOGRAPHY, MAGNETIC RESONANCE IMAGING (MRI), and genetic evaluation.

Diaphysial aclasis is an inherited bone condition where multiple extra bone growths develop near the ends of growing bones, sometimes causing deformities or movement problems.

• Diaphysial aclasis is a rare inherited disorder affecting bone growth. • It is also called hereditary multiple exostoses. • It causes multiple benign bone growths called osteochondromas. • These growths usually appear near the growth areas of long bones. • It commonly affects bones of the arms, legs, shoulders, and pelvis. • It occurs due to changes in genes involved in normal bone formation. • Possible effects include: - Unequal limb length. - Bone deformities. - Reduced joint movement. - Pressure on nearby nerves or blood vessels. • Rarely, an osteochondroma may develop into a malignant bone tumor. • Monitoring and surgery may be needed if growths cause complications.