Thanatophoric DysplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Thanatophoric Dysplasia
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.
Mutations in the FGFR3 gene cause thanatophoric dysplasia. Both types of this condition result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth that are characteristic of thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.
This condition occurs in 1 in 20,000 to 50,000 newborns. Type I thanatophoric dysplasia is more common than type II.
Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. Virtually all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. No affected individuals are known to have had children; therefore, the disorder has not been passed to the next generation.
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 an Elite provider by MediFind in the treatment of Thanatophoric 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.
Chih-ping Chen practices practicing medicine in Taiwan. Chen is rated as an Elite expert by MediFind in the treatment of Thanatophoric Dysplasia. They are also highly rated in 127 other conditions, according to our data. Their clinical expertise encompasses Trisomy 14 Mosaicism, Hygroma Cervical, Mosaicism, and Mosaic Trisomy 8.
Arnold Munnich practices practicing medicine in Paris, France. Mr. Munnich is rated as an Elite expert by MediFind in the treatment of Thanatophoric Dysplasia. He is also highly rated in 77 other conditions, according to our data. His clinical expertise encompasses Acromicric Dysplasia, Polydactyly, Crouzon Syndrome, and Thanatophoric Dysplasia.
Published Date: October 01, 2012
Published By: National Institutes of Health