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
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Dr. Michael B. Bober
Medical Genetics
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 provider in Wilmington, Delaware. Dr. Bober 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 Adenoidectomy. 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 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, Arthrogryposis Multiplex Congenita, and Congenital Contractures.

 
 
 
 
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Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Pelin O. Kiper-Simsek
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Pelin O. Kiper-Simsek
Ankara, TR 

Pelin Kiper-Simsek practices in Ankara, Turkey. Ms. Kiper-Simsek is rated as an Elite expert by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Chondrodystrophy, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Brachydactyly Mononen Type.

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What are the latest X-Linked Spondyloepiphyseal Dysplasia Tarda Clinical Trials?
A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation
A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation
Who is this study for: Patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant
Enrollment Status: Recruiting
Publish Date: December 15, 2025
Intervention Type: Drug
Study Drugs: Hydroxyurea, Alemtuzumab, Fludarabine, Melphalan, Thiotepa
Study Phase: Phase 2

Summary: The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant (BMT) or peripheral blood stem cell transplant (PBSCT) in patients with non-malignant disorders that are amenable to treatment with hematopoietic stem cell transplant (HSCT). ...

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Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study
Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study
Who is this study for: Patients with Osteogenesis Imperfecta
Enrollment Status: Recruiting
Publish Date: December 15, 2025
Intervention Type: Drug
Study Drug: Risedronate Oral Tablet
Study Phase: Phase 4

Summary: Osteogenesis Imperfecta-related hearing loss usually occurs in individuals with mild (type I) OI and is much earlier in onset than age-related hearing loss, with the majority of individuals experiencing some minor hearing loss in their 20s. Bisphosphonates have been successfully used to treat otosclerosis, a common cause of hearing loss similar to OI-related hearing loss. As many individuals with ...

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