Metatropic DysplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Metatropic Dysplasia
Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change over time.
Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel. The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. The channel is found in many types of cells, but little is known about its function. Studies suggest that it plays a role in the normal development of cartilage and bone. This role would help explain why TRPV4 gene mutations cause the skeletal abnormalities characteristic of metatropic dysplasia. Mutations in the TRPV4 gene appear to overactivate the channel, increasing the flow of calcium ions into cells. However, it remains unclear how changes in the activity of the calcium channel lead to the specific features of the condition.
Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature.
Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the condition from an affected parent.
Nemours Children's Hospital, Delaware
Dr. Michael B. Bober is a pediatric geneticist and an authority on skeletal dysplasias, brittle bone disease, primordial dwarfism and other genetic disorders of the skeleton. He is a frequent guest lecturer, accomplished author and consultant for numerous television networks, here and abroad. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Metatropic Dysplasia. He is also highly rated in 70 other conditions, according to our data. His clinical expertise encompasses Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is board certified in American Board Of Medical Genetics And Genomics.
Nemours Children's Hospital, Delaware
Dr. Ricki Carroll is a complex care and palliative care physician on the skeletal dysplasia and palliative care teams at Nemours Children’s Hospital, Delaware. Dr. Carroll works to provide a medical home and manage care for children with a wide array of skeletal dysplasias. Her background in palliative medicine allows her to focus on pain and symptom management needs for these children, teens and young adults. Dr. Carroll also leads the skeletal dysplasia consultative service, providing care for infants and children with skeletal dysplasias who are in the hospital. Additionally, drawing upon her Master’s in Bioethics, she is currently serving as co-Chair of the Nemours Ethics and Patients’ Rights Committee. It’s an honor and a privilege to care for families, children and teens with skeletal dysplasias and medically complex conditions. I aim to treat each child or teen as a whole, and not just treat the individual condition, as I feel spiritual and emotional needs are just as important as medical and physical ones. I try to intently listen to each child or teen and family when they are under my care, in hopes of understanding their story and their experience and, therefore, focusing goals of care to their individual needs. My medical interests include: Clinical management of infants with skeletal dysplasias, including OI, thanatophoric dysplasia, and collagen-II-opathies Emerging medical treatments for skeletal dysplasias The elucidation of the natural history of OI and skeletal dysplasias The role of biomarkers in all skeletal dysplasias Management of chronic pain in adolescents and young adults with skeletal dysplasias Complex medical conditions Palliative care I try to make a difference by focusing on each child or teen as if they are my one and only patient. I aim to provide a comforting environment for kids while they are in our care and always consider how to better manage symptoms and control any pain. I earned a master's degree in bioethics, and often call upon what I learned to help inform how I view the way the hospital and our teams deliver excellent care to children and teens. Dr. Carroll is rated as a Distinguished provider by MediFind in the treatment of Metatropic Dysplasia. She is also highly rated in 53 other conditions, according to our data. Her clinical expertise encompasses Thanatophoric Dysplasia, Spondyloepiphyseal Dysplasia, Diastrophic Dysplasia, Acromicric Dysplasia, and Osteotomy. Dr. Carroll is board certified in American Board Of Pediatrics.
Nemours Children's Hospital, Delaware
Dr. Jeffery Campbell has been a pediatric neurosurgeon at Nemours for 20 years. His most notable work is with kids that have skeletal dysplasia and he acts as the neurosurgical component of our larger skeletal dysplasia program at Nemours. Most of his research has been in dwarfism and osteogenesis imperfecta (OI). Prior to Nemours, he worked in a private practice in Charleston, SC. When I was in medical school, I knew that I wanted to do something “brain-related.” During my fourth year, I did a neurology rotation and thoroughly enjoyed the immediate feedback of surgery. I split my residency time between pediatric and adult hospitals, but quickly realized that I loved working with kids. I was able to see kids get better and found the impact I had on them gratifying. My goal as a doctor is to have a long-term impact on someone’s life and treating kids was my path to do just that. I am passionate about providing the best possible care for all children. I enjoy being on the cutting edge of treating rare problems on the skeletal dysplasia spectrum and I take pride in people traveling to Nemours from all over the country to seek such treatment. I love that I can do things that can’t be done anywhere else. I believe that health care should be a team sport. I always advocate for team approaches, especially with complicated cases. I actively create multidisciplinary teams for many of my patients to give them the very best care. Dr. Campbell is rated as an Advanced provider by MediFind in the treatment of Metatropic Dysplasia. He is also highly rated in 80 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Increased Head Circumference, Syringomyelia, Bone Graft, and Adenoidectomy. Dr. Campbell is board certified in American Board Of Neurological Surgery.
Published Date: April 01, 2012
Published By: National Institutes of Health