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
Referral may be required

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 69 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
Referral may be required
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 77 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
Referral may be required

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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Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study

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