Spondyloepiphyseal Dysplasia
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Learn About Spondyloepiphyseal Dysplasia

What is the definition of Spondyloepiphyseal Dysplasia?
Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, Spondyloepiphyseal dysplasia congenita (which is present from bith) and Spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence). Spondyloepiphyseal dysplasia is caused by genetic changes in genes that are responsible for making proteins that are needed for the creation of bone and cartilage. Most cases are due to a new (de novo) genetic change, although it can be passed down through families.
What are the alternative names for Spondyloepiphyseal Dysplasia?
  • Spondyloepiphyseal dysplasia
Who are the top Spondyloepiphyseal Dysplasia Local Doctors?
Elite in Spondyloepiphyseal Dysplasia
Medical Genetics
Elite in Spondyloepiphyseal Dysplasia
Medical Genetics

Nemours Children's Hospital, Delaware

1600 Rockland Road, 
Wilmington, DE 
Experience:
17+ years
Languages Spoken:
English

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 Spondyloepiphyseal 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.

Experienced in Spondyloepiphyseal Dysplasia
Orthopedics
Experienced in Spondyloepiphyseal Dysplasia
Orthopedics

Twin Cities Spine Center

913 E 26th St, Suite 600, 
Minneapolis, MN 
Experience:
25+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Joseph Perra is an Orthopedics provider practicing medicine in Minneapolis, Minnesota. He has been practicing medicine for over 25 years. Dr. Perra is rated as an Experienced provider by MediFind in the treatment of Spondyloepiphyseal Dysplasia. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Kyphosis, Frontonasal Dysplasia Klippel Feil Syndrome, Spinal Fusion, and Microdiscectomy. Dr. Perra is currently accepting new patients.

 
 
 
 
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Distinguished in Spondyloepiphyseal Dysplasia
Medical Genetics
Distinguished in Spondyloepiphyseal Dysplasia
Medical Genetics

Nemours Children's Hospital, Delaware

1600 Rockland Road, 
Wilmington, DE 
Experience:
32+ years
Languages Spoken:
English

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 a Distinguished provider by MediFind in the treatment of Spondyloepiphyseal 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.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center