X-Linked Spondyloepiphyseal Dysplasia Tarda Overview

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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
Dr. Michael B. Bober
Medical Genetics | Pediatrics
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Dr. Michael B. Bober
Medical Genetics | Pediatrics
A.i. Dupont Hospital For Children, 1600 Rockland Road, 
Wilmington, DE 
302-651-4000
Languages Spoken:
English
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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
Katta M. Girisha
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Katta M. Girisha
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
Khalid Mehmood
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Khalid Mehmood
Outfall Road, 
Lahore, PB, PK 

Khalid Mehmood practices in Lahore, Pakistan. Mr. 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 Schwartz-Jampel Syndrome, Chondrodystrophy, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Brachydactyly Mononen Type.

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What are the latest X-Linked Spondyloepiphyseal Dysplasia Tarda Clinical Trials?
Coordination of Rare Diseases at Sanford
Coordination of Rare Diseases at Sanford
Enrollment Status: Recruiting
Publish Date: May 29, 2025

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

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Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease
Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease
Enrollment Status: Recruiting
Publish Date: May 28, 2025

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