Kozlowski Spondylometaphyseal Dysplasia
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Kozlowski Spondylometaphyseal Dysplasia Overview

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Learn About Kozlowski Spondylometaphyseal Dysplasia

What is the definition of Kozlowski Spondylometaphyseal Dysplasia?
Spondylometaphyseal dysplasia, Kozlowski type is a bone disease characterized by short stature involving the trunk. Spondylorefers to the spine (vertebrae), "metaphysis" refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and "dysplasia" means abnormal growth. It usually starts in early childhood when poor growth with uneven stature and a waddling gait with bow legs (genu varum) is noticed. Early osteoarthritis of the joints is also common. Other signs and symptoms include small hands and fingers, spine deformities, and X-ray showing short vertebra, mild metaphyseal changes, severe delay in ossification, square, short, flared iliac wings (the broadest part of the pelvic bone) and a flat and irregular hipbone. Spondylometaphyseal dysplasia, Kozlowski type is caused by genetic changes in the TRPV4 gene. Inheritance is autosomal dominant.
What are the alternative names for Kozlowski Spondylometaphyseal Dysplasia?
  • Spondylometaphyseal dysplasia, Kozlowski type
  • Dysmorphism arthrogryposis skeletal maturation advanced
  • Jequier Kozlowski skeletal dysplasia
  • Jequier-Kozlowski syndrome
  • SMD Kozlowski type
  • Skeletal dysplasia Jequier-Kozlowski type
Who are the top Kozlowski Spondylometaphyseal Dysplasia Local Doctors?
Elite in Kozlowski Spondylometaphyseal Dysplasia
Peter Beighton
Elite in Kozlowski Spondylometaphyseal Dysplasia
Peter Beighton

University Of Cape Town

Cape Town, WC, ZA 

Peter Beighton practices in Cape Town, South Africa. Mr. Beighton is rated as an Elite expert by MediFind in the treatment of Kozlowski Spondylometaphyseal Dysplasia. His top areas of expertise are Kozlowski Spondylometaphyseal Dysplasia, Spondyloepimetaphyseal Dysplasia Joint Laxity, Spondyloepimetaphyseal Dysplasia Strudwick Type, and Chondrodystrophy.

Michael B. Bober
Distinguished in Kozlowski Spondylometaphyseal Dysplasia
Dr. Michael B. Bober
Medical Genetics
Distinguished in Kozlowski Spondylometaphyseal Dysplasia
Dr. Michael B. Bober
Medical Genetics

Nemours Children's Hospital, Delaware

1600 Rockland Road, 
Wilmington, DE 
800-416-4441
Experience:
32+ years
Languages Spoken:
English
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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 a Distinguished provider by MediFind in the treatment of Kozlowski Spondylometaphyseal Dysplasia. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy.

 
 
 
 
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Distinguished in Kozlowski Spondylometaphyseal Dysplasia
Shiro Ikegawa
Distinguished in Kozlowski Spondylometaphyseal Dysplasia
Shiro Ikegawa
Yokohama, JP 

Shiro Ikegawa practices in Yokohama, Japan. Mr. Ikegawa is rated as a Distinguished expert by MediFind in the treatment of Kozlowski Spondylometaphyseal Dysplasia. His top areas of expertise are Adolescent Idiopathic Scoliosis, Scoliosis, Spondylocostal Dysostosis, and Schwartz-Jampel Syndrome.

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