X-Linked Spondyloepiphyseal Dysplasia Tarda
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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
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Medical Genetics

Nemours Children's Hospital, Delaware

1600 Rockland Road, 
Wilmington, DE 
Experience:
32+ years
Languages Spoken:
English

Dr. Michael B. Bober is a pediatric geneticist and an authority on skeletal dysplasias, brittle bone disease, primordial dwarfism and other genetic disorders of the skeleton. He is a frequent guest lecturer, accomplished author and consultant for numerous television networks, here and abroad. Dr. Bober is rated as an Elite provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. He is also highly rated in 70 other conditions, according to our data. His clinical expertise encompasses Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is board certified in American Board Of Medical Genetics And Genomics.

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

Katta Girisha practices practicing medicine in Manipala, India. Girisha is rated as an Elite expert by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. They are also highly rated in 79 other conditions, according to our data. Their clinical expertise encompasses Pyle Disease, Brachydactyly Mononen Type, Arthrogryposis Multiplex Congenita, and Congenital Contractures.

 
 
 
 
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Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda
Elite in X-Linked Spondyloepiphyseal Dysplasia Tarda

Nemours Children's Hospital Delaware

1600 Rockland Rd, 
Wilmington, DE 
Languages Spoken:
English

William Mackenzie is an Orthopedics provider practicing medicine in Wilmington, Delaware. Dr. Mackenzie is rated as an Elite provider by MediFind in the treatment of X-Linked Spondyloepiphyseal Dysplasia Tarda. He is also highly rated in 59 other conditions, according to our data. His clinical expertise encompasses Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Brachydactyly Mononen Type, Achondroplasia, Osteotomy, and Spinal Fusion.

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