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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
Elite in Spondyloepiphyseal Dysplasia
P.R. China, 
Changzhi, CN 

Hongzhuo Li practices in Changzhi, China. Li is rated as an Elite expert by MediFind in the treatment of Spondyloepiphyseal Dysplasia. Their top areas of expertise are Spondyloepiphyseal Dysplasia, Spondyloepiphyseal Dysplasia Congenita, Brachydactyly Mononen Type, and Schwartz-Jampel Syndrome.

Elite in Spondyloepiphyseal Dysplasia
Hospital Medicine | Pediatrics
Elite in Spondyloepiphyseal Dysplasia
Hospital Medicine | Pediatrics

The Nemours Foundation

1600 Rockland Rd, 
Wilmington, DE 
Languages Spoken:
English
Accepting New Patients

Ricki Carroll is a Hospital Medicine specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Carroll is rated as an Elite provider by MediFind in the treatment of Spondyloepiphyseal Dysplasia. Her top areas of expertise are Thanatophoric Dysplasia, Spondyloepiphyseal Dysplasia, Diastrophic Dysplasia, Acromicric Dysplasia, and Osteotomy. Dr. Carroll is currently accepting new patients.

 
 
 
 
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Robert H. Cho
Experienced in Spondyloepiphyseal Dysplasia
Pediatric Orthopedics | Orthopedics
Experienced in Spondyloepiphyseal Dysplasia
Pediatric Orthopedics | Orthopedics

Los Angeles Pediatric Orthopaedics

11710 Wilshire Blvd, 
Los Angeles, CA 
Languages Spoken:
English
Offers Telehealth

Robert Cho is an Orthopedics provider in Los Angeles, California. Dr. Cho is rated as an Experienced provider by MediFind in the treatment of Spondyloepiphyseal Dysplasia. His top areas of expertise are Scoliosis, Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, Kyphosis, and Spinal Fusion.

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