FibrochondrogenesisSymptoms, Doctors, Treatments, Advances & More
Learn About Fibrochondrogenesis
Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants have a very narrow chest, which prevents the lungs from developing normally. Most infants with this condition are stillborn or die shortly after birth from respiratory failure. However, some affected individuals have lived into childhood.
Fibrochondrogenesis can result from mutations in the COL11A1 or COL11A2 gene. When the condition is caused by COL11A1 gene mutations, it is designated as type 1; when it is caused by COL11A2 gene mutations, it is designated as type 2. Both of these genes provide instructions for making components of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Specifically, type XI collagen is found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the inner ear; the vitreous, which is the clear gel that fills the eyeball; and the nucleus pulposus, which is the center portion of the discs between vertebrae.
Fibrochondrogenesis appears to be a rare disorder. About 20 affected individuals have been described in the medical literature.
Fibrochondrogenesis is generally inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. In a few reported cases, parents of children with fibrochondrogenesis have had mild features that may be related to the condition, including slightly short stature, myopia, cataracts, joint pain, and hearing loss.
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 Fibrochondrogenesis. 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.
Nemours Children's Hospital, Delaware
Both of my parents were in the medical field and strongly influenced the direction of my career. I became a physical therapist, which I enjoyed immensely, but I thought I could make a different contribution to patient care by becoming a physician. In radiology, we are part of the medical team that helps diagnose or exclude an illness and we help to direct the course of our patient’s treatment. Working with children is an amazing experience. Kids are so resilient and bounce back from all types of difficult situations. They each have such a unique perspective and we try our best to tailor our interactive imaging procedures to the child. Sometimes this involves providing anatomy lessons to teen patients, other times it involves just “getting it over with.” We aim to make our imaging procedures as interesting and as comfortable as possible. My areas of interest include: Pediatric Body Imaging Fetal Imaging Child Abuse I try to provide the most accurate information based on our imaging studies to the patient’s medical team so that the child can be treated as quickly as possible. I am fortunate to work with an incredible group of medical practitioners at Nemours/Alfred I. duPont Hospital for Children who share my passion to provide the highest quality medical care to all children. Dr. Harty is rated as an Advanced provider by MediFind in the treatment of Fibrochondrogenesis. She is also highly rated in 52 other conditions, according to our data. Her clinical expertise encompasses X-Linked Spondyloepiphyseal Dysplasia Tarda, Weissenbacher-Zweymuller Syndrome, Kniest Dysplasia, and Spondyloepiphyseal Dysplasia. Dr. Harty is board certified in American Board Of Radiology.
Nemours Children's Hospital, Delaware
Michael Moore is a Pediatric Radiologist and a Radiologist practicing medicine in Wilmington, Delaware. He has been practicing medicine for over 22 years. Dr. Moore is rated as an Advanced provider by MediFind in the treatment of Fibrochondrogenesis. He is also highly rated in 86 other conditions, according to our data. His clinical expertise encompasses Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Scoliosis, and Hypochondroplasia. Dr. Moore is board certified in American Board Of Radiology.
Published Date: April 01, 2016
Published By: National Institutes of Health