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?
Experienced in X-Linked Spondyloepiphyseal Dysplasia Tarda
Dr. Katie Vo
Neuroradiology | Radiology
Experienced in X-Linked Spondyloepiphyseal Dysplasia Tarda
Dr. Katie Vo
Neuroradiology | Radiology

Washington University

14532 S Outer 40 Rd, 
Chesterfield, MO 
 (0.3 mi)
314-514-3500
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Katie Vo is a Neuroradiologist and a Radiologist in Chesterfield, Missouri. Dr. Vo and is rated as an Experienced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Stroke, Subarachnoid Hemorrhage, Cerebral Arteriovenous Malformation, Embolectomy, and Bone Marrow Aspiration.

Distinguished in X-Linked Spondyloepiphyseal Dysplasia Tarda
Dr. Dorothy K. Grange
Medical Genetics | Pediatrics
Distinguished in X-Linked Spondyloepiphyseal Dysplasia Tarda
Dr. Dorothy K. Grange
Medical Genetics | Pediatrics

Washington University

1 Childrens Pl, 
Saint Louis, MO 
 (17.0 mi)
314-273-1006
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Dorothy Grange is a Medical Genetics specialist and a Pediatrics provider in Saint Louis, Missouri. Dr. Grange and is rated as a Distinguished provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. Her top areas of expertise are Phenylketonuria (PKU), Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias. Dr. Grange is currently accepting new patients.

 
 
 
 
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Advanced in X-Linked Spondyloepiphyseal Dysplasia Tarda
Dr. Alex Hanson
Internal Medicine
Advanced in X-Linked Spondyloepiphyseal Dysplasia Tarda
Dr. Alex Hanson
Internal Medicine
1 Barnes Jew Hosp Plz, 
Saint Louis, MO 
 (17.0 mi)
314-362-8065
Languages Spoken:
English

Alex Hanson is an Internal Medicine provider in Saint Louis, Missouri. Dr. Hanson and is rated as an Advanced provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. His top areas of expertise are Cantu Syndrome, Hirsutism in Women, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Chondrodystrophy.

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What are the latest X-Linked Spondyloepiphyseal Dysplasia Tarda Clinical Trials?
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: January 27, 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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Prospective Clinical Assessment Study in Children with Achondroplasia: the PROPEL Trial
Prospective Clinical Assessment Study in Children with Achondroplasia: the PROPEL Trial
Enrollment Status: Recruiting
Publish Date: January 24, 2025

Summary: This is a long-term, multi-center, observational study in children 2.5 to \<17 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications, assessments of health-related quality of life, body pain, functional abilities, cognitive functions, and treatments of study participants. No study medication will be administered.

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Who are the sources who wrote this article ?

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