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Learn About X-Linked Spondyloepiphyseal Dysplasia Tarda

What is the definition of X-Linked Spondyloepiphyseal Dysplasia Tarda?
X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by genetic changes in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.
What are the alternative names for X-Linked Spondyloepiphyseal Dysplasia Tarda?
  • Spondyloepiphyseal dysplasia tarda X-linked
  • SED
  • X linked spondyloepiphyseal dysplasia tarda
  • X-linked spondyloepiphyseal dysplasia
Who are the top X-Linked Spondyloepiphyseal Dysplasia Tarda Local Doctors?
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Medical Genetics | Pediatrics
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Medical Genetics | Pediatrics
A.i. Dupont Hospital For Children, 1600 Rockland Road, 
Wilmington, DE 
Languages Spoken:
English
Accepting New Patients

Michael Bober is a Medical Genetics specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Bober and is rated as an Elite provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Myringotomy. Dr. Bober is currently accepting new patients.

Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Manipala, KA, IN 

Katta Girisha practices in Manipala, India. Girisha and is rated as an Elite expert by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Their top areas of expertise are Pyle Disease, Brachydactyly Mononen Type, Congenital Contractures, and Arthrogryposis Multiplex Congenita.

 
 
 
 
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Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Outfall Road, 
Lahore, PB, PK 

Khalid Mehmood practices in Lahore, Pakistan. Mehmood and is rated as an Elite expert by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Brachydactyly Mononen Type, Chondrodystrophy, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Schwartz-Jampel Syndrome.

What are the latest X-Linked Spondyloepiphyseal Dysplasia Tarda Clinical Trials?
Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease

Background: - The rare disease melorheostosis causes bones to thicken. This may lead to pain, and can affect bones, joints, and muscles. Researchers want to learn more about the disease and how it progresses.

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Longitudinal Study of Neurodegenerative Disorders

Summary: The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the effects of interventions.

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