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
Vandna Passi is a Pulmonary Medicine provider practicing medicine in Wilmington, Delaware. Dr. Passi is rated as an Advanced provider by MediFind in the treatment of Fibrochondrogenesis. She is also highly rated in 16 other conditions, according to our data. Her clinical expertise encompasses Subglottic Stenosis, Ellis-Van Creveld Syndrome, Kozlowski Warren Fisher Syndrome, and Thanatophoric Dysplasia. Dr. Passi is board certified in American Board Of Pediatrics. Dr. Passi is currently accepting new patients.
Allan Richards practices practicing medicine in Cambridge, United Kingdom. Mr. Richards is rated as a Distinguished expert by MediFind in the treatment of Fibrochondrogenesis. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Stickler Syndrome, Fibrochondrogenesis, Fountain Syndrome, Retinal Detachment, and Vitrectomy.
Martin Snead practices practicing medicine in Cambridge, United Kingdom. Mr. Snead is rated as a Distinguished expert by MediFind in the treatment of Fibrochondrogenesis. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Stickler Syndrome, Retinal Detachment, Fountain Syndrome, Deafness Craniofacial Syndrome, and Vitrectomy.
Published Date: April 01, 2016
Published By: National Institutes of Health