Spondyloepiphyseal Dysplasia Overview

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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
Hongzhuo Q. Li
Elite in Spondyloepiphyseal Dysplasia
Hongzhuo Q. Li
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 Chondrodystrophy.

Elite in Spondyloepiphyseal Dysplasia
Dr. Ricki S. Carroll
Hospital Medicine | Pediatrics
Elite in Spondyloepiphyseal Dysplasia
Dr. Ricki S. Carroll
Hospital Medicine | Pediatrics
1600 Rockland Rd, 
Wilmington, DE 
302-651-5916
Languages Spoken:
English
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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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Fabio Midulla
Distinguished in Spondyloepiphyseal Dysplasia
Fabio Midulla
Distinguished in Spondyloepiphyseal Dysplasia
Fabio Midulla
Rome, IT 

Fabio Midulla practices in Rome, Italy. Mr. Midulla is rated as a Distinguished expert by MediFind in the treatment of Spondyloepiphyseal Dysplasia. His top areas of expertise are Bronchitis, Stridor, Parainfluenza, Stent Placement, and Endoscopy.

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