Craniometaphyseal dysplasia is a rare condition characterized by thickening (overgrowth) of bones in the skull (cranium) and abnormalities in a region at the end of long bones known as the metaphysis. The abnormal bone growth continues throughout life. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.
Mutations in the ANKH gene cause autosomal dominant craniometaphyseal dysplasia. The ANKH gene provides instructions for making a protein that plays a role in the development and function of cells that build bones (osteoblasts) and cells that break down bone (osteoclasts). Osteoclasts are involved in bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. In addition, the ANKH protein transports a molecule called pyrophosphate out of cells. The pyrophosphate found outside of cells (extracellular pyrophosphate) helps control bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions.
Craniometaphyseal dysplasia is a very rare disorder; its incidence is unknown.
When caused by mutations in the ANKH gene, craniometaphyseal dysplasia follows an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. Less often, cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Larry Borish is an Allergy and Immunologist in Charlottesville, Virginia. Borish has been practicing medicine for over 44 years and is rated as an Advanced expert by MediFind in the treatment of Craniometaphyseal Dysplasia. He is also highly rated in 28 other conditions, according to our data. His top areas of expertise are Hives, Asthma, Nasal Polyps, and Chronic Rhinosinusitis with Nasal Polyps (CRSwNP). Borish is currently accepting new patients.
Edward Fox is an Orthopedics expert in Hershey, Pennsylvania. Fox has been practicing medicine for over 28 years and is rated as an Advanced expert by MediFind in the treatment of Craniometaphyseal Dysplasia. He is also highly rated in 63 other conditions, according to our data. His top areas of expertise are Chondroblastoma, Chondroma, Osteochondroma, Relapsing Multiple Sclerosis (RMS), and Hip Replacement. Fox is currently accepting new patients.
Ruth Kantor is an Oncologist in Towson, Maryland. Kantor has been practicing medicine for over 42 years and is rated as an Advanced expert by MediFind in the treatment of Craniometaphyseal Dysplasia. She is also highly rated in 17 other conditions, according to our data. Her top areas of expertise are Stuve-Wiedemann Syndrome, Chondrodysplasia, Grebe Type, Multicentric Carpotarsal Osteolysis Syndrome, and Greenberg Dysplasia. Kantor is currently accepting new patients.
Summary: CMD can be inherited in an autosomal dominant or recessive trait. CMD may also be caused by de novo mutations. The goal of this study is to identify genes and regulatory elements on chromosomes that are the cause for CMD. The investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The investigators long-term goal is to find m...
Published Date: June 01, 2018Published By: National Institutes of Health
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