Kozlowski Spondylometaphyseal Dysplasia
Symptoms, Doctors, Treatments, Advances & More

Save information for later
Sign Up

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
Elite in Kozlowski Spondylometaphyseal Dysplasia

University Of Cape Town

Cape Town, WC, ZA 

Peter Beighton practices practicing medicine in Cape Town, South Africa. Mr. Beighton is rated as an Elite expert by MediFind in the treatment of Kozlowski Spondylometaphyseal Dysplasia. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Kozlowski Spondylometaphyseal Dysplasia, Spondyloepimetaphyseal Dysplasia Joint Laxity, Spondyloepimetaphyseal Dysplasia Strudwick Type, and Chondrodystrophy.

Distinguished in Kozlowski Spondylometaphyseal Dysplasia
Medical Genetics
Distinguished in Kozlowski Spondylometaphyseal Dysplasia
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 a Distinguished provider by MediFind in the treatment of Kozlowski Spondylometaphyseal Dysplasia. 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.

 
 
 
 
Learn about our expert tiers
Learn More
Advanced in Kozlowski Spondylometaphyseal Dysplasia
Advanced in Kozlowski Spondylometaphyseal Dysplasia

Nemours Children's Hospital, Delaware

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

Dr. Jeffery Campbell has been a pediatric neurosurgeon at Nemours for 20 years. His most notable work is with kids that have skeletal dysplasia and he acts as the neurosurgical component of our larger skeletal dysplasia program at Nemours. Most of his research has been in dwarfism and osteogenesis imperfecta (OI). Prior to Nemours, he worked in a private practice in Charleston, SC. When I was in medical school, I knew that I wanted to do something “brain-related.” During my fourth year, I did a neurology rotation and thoroughly enjoyed the immediate feedback of surgery. I split my residency time between pediatric and adult hospitals, but quickly realized that I loved working with kids. I was able to see kids get better and found the impact I had on them gratifying. My goal as a doctor is to have a long-term impact on someone’s life and treating kids was my path to do just that. I am passionate about providing the best possible care for all children. I enjoy being on the cutting edge of treating rare problems on the skeletal dysplasia spectrum and I take pride in people traveling to Nemours from all over the country to seek such treatment. I love that I can do things that can’t be done anywhere else. I believe that health care should be a team sport. I always advocate for team approaches, especially with complicated cases. I actively create multidisciplinary teams for many of my patients to give them the very best care. Dr. Campbell is rated as an Advanced provider by MediFind in the treatment of Kozlowski Spondylometaphyseal Dysplasia. He is also highly rated in 80 other conditions, according to our data. His clinical expertise encompasses Achondroplasia, Increased Head Circumference, Syringomyelia, Bone Graft, and Adenoidectomy. Dr. Campbell is board certified in American Board Of Neurological Surgery.

What are the latest Kozlowski Spondylometaphyseal Dysplasia Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

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