Hereditary Multiple OsteochondromasSymptoms, Doctors, Treatments, Advances & More
Hereditary Multiple Osteochondromas Overview
Learn About Hereditary Multiple Osteochondromas
Hereditary multiple osteochondromas is a condition in which people develop multiple noncancerous (benign) bone tumors called osteochondromas. These tumors are capped with a layer of cartilage, which is a soft tissue that makes up much of the skeleton during early development. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals.
Changes in the EXT1 and EXT2 genes cause hereditary multiple osteochondromas. Genetic changes that cause disease are called pathogenic variants. The EXT1 and EXT2 genes provide instructions for producing the proteins exostosin-1 and exostosin-2, respectively. The two exostosin proteins bind together and form a complex found in a cell structure called the Golgi apparatus, which modifies newly produced enzymes and other proteins. In the Golgi apparatus, the exostosin-1 and exostosin-2 complex modifies a protein called heparan sulfate so it can be used by the cell. Heparan sulfate is involved in regulating a variety of body processes, including bone formation (ossification) and the growth and specialization (differentiation) of cartilage-forming cells called chondrocytes.
The incidence of hereditary multiple osteochondromas is estimated to be at least 1 in 50,000 to 100,000 individuals.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 90 percent of individuals with hereditary multiple osteochondromas inherit a pathogenic variant from one affected parent. The remaining 10 percent of cases result from a new (de novo) variant in the gene that occurs during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These affected individuals typically have no history of the disorder in their family.
Kazu Matsumoto practices practicing medicine in Gifu-shi, Japan. Matsumoto is rated as an Elite expert by MediFind in the treatment of Hereditary Multiple Osteochondromas. They are also highly rated in 7 other conditions, according to our data. Their clinical expertise encompasses Hereditary Multiple Osteochondromas, Osteochondroma, Osteoarthritis, Osteotomy, and Trapeziectomy.
Nailya Galeeva practices practicing medicine in Moscow, Russian Federation. Galeeva is rated as an Elite expert by MediFind in the treatment of Hereditary Multiple Osteochondromas. They are also highly rated in 4 other conditions, according to our data. Their clinical expertise encompasses Hereditary Multiple Osteochondromas, Osteochondroma, Metachondromatosis, and Infant Hearing Loss.
Daniel Porter practices practicing medicine in Beijing, China. Mr. Porter is rated as an Elite expert by MediFind in the treatment of Hereditary Multiple Osteochondromas. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Hereditary Multiple Osteochondromas, Osteochondroma, Collins Pope Syndrome, Chondrosarcoma, and Vertebroplasty.
Summary: Multiple Osteochondromas (MO), also known as Multiple Cartilaginous Exostoses, is an autosomal dominant skeletal disorder with an incidence of approximately 1 in 50,000 in Western populations. Most cases are associated with pathogenic variants in the EXT1 and EXT2 genes, which lead to a systemic reduction of heparan sulfate, causing abnormalities in bone growth and other physiological processes. S...
Summary: The main purpose of the study is the characterization of functional and morphological alterations due to multiple osteochondromas in a pediatric and adult population through the identification of relevant anthropometric and functional parameters. The morphological and functional data, supplemented with clinical and postural data, will allow the characterization of the disease with an holistic appr...
Published Date: May 04, 2026
Published By: National Institutes of Health