Is Melorheostosis genetic?

In cases of melorheostosis without an identified mutation in the MAP2K1 gene, the cause of the condition is usually unknown. Studies suggest that somatic mutations in other genes, particularly genes related to the RAS/MAPK signaling pathway, may also cause the disorder.

What is Osteopathia striata with cranial sclerosis?

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

What is osteopathia striata?

Osteopathia striata with cranial sclerosis (OSCS) is a sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae.

Who is most likely to get melorheostosis?

The age of diagnosis is typically based on severity of onset and symptoms and varies widely in children and adults. Melorheostosis is usually observed in early childhood and may even be apparent in the first days of life. Fifty percent of patients with melorheostosis will develop symptoms by age 20.

How common is melorheostosis?

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

Which sclerosing bone dysplasia is characterized by prominent vertical sclerotic striations in the metaphyses of long bones often bilaterally?

Osteopathia striata is typically bilateral, although occasionally it can be unilateral, typically in tubular bones. Radiographically prominent vertical striations predominate in the metaphyses and epiphyses of the long bones (celery stalk metaphysis).

Is a doctor of osteopathy a real doctor?

Bauer, M.D. A doctor of osteopathic medicine (D.O.) is a fully trained and licensed doctor who has attended and graduated from a U.S. osteopathic medical school. A doctor of medicine (M.D.) has attended and graduated from a conventional medical school.

Where is the diaphysis?

The central tubular region of the bone, called the diaphysis, flares outward near the end to form the metaphysis, which contains a largely cancellous, or spongy, interior. At the end of the bone is the epiphysis, which in young people is separated from the metaphysis by the physis, or growth plate.

Is the metaphysis the growth plate?

The metaphysis is the neck portion of a long bone between the epiphysis and the diaphysis. It contains the growth plate, the part of the bone that grows during childhood, and as it grows it ossifies near the diaphysis and the epiphyses.