Learn About Metaphyseal Chondrodysplasia Schmid Type

What is the definition of Metaphyseal Chondrodysplasia Schmid Type?
Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis, leg pain, joint pain, hip deformities, and an outward flaring of the bones of the lower rib cage. As a result of the hip and leg findings, individuals with this condition may have an unusual walk that resembles a waddle. The condition is often mistaken for vitamin D-deficient rickets. MCDS is caused by a genetic change in one of the collagen genes known as COL10A1. The genetic change may be inherited from a parent or may happen for the first time in an affected individual. The MCDS genetic change is passed on in an autosomal dominant manner.
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What are the alternative names for Metaphyseal Chondrodysplasia Schmid Type?
  • Metaphyseal chondrodysplasia Schmid type
  • MCDS
Who are the top Metaphyseal Chondrodysplasia Schmid Type Local Doctors?
RH
Raymond P. Handford-Boot
Distinguished
Highly rated in
14
conditions

University Of Manchester

Faculty Of Life Sciences, 
Manchester, ENG, GB 

Raymond Handford-Boot practices in Manchester, United Kingdom. Handford-Boot is rated as a Distinguished expert by MediFind in the treatment of Metaphyseal Chondrodysplasia Schmid Type. He is also highly rated in 14 other conditions, according to our data. His top areas of expertise are Metaphyseal Chondrodysplasia Schmid Type, Spondyloepimetaphyseal Dysplasia Strudwick Type, Schwartz-Jampel Syndrome, and X-Linked Spondyloepiphyseal Dysplasia Tarda.

MB
Michael D. Briggs
Distinguished
Highly rated in
10
conditions

International Centre For Life

Biosciences Institute, Newcastle University, 
Newcastle Upon Tyne, ENG, GB 

Michael Briggs practices in Newcastle Upon Tyne, United Kingdom. Briggs is rated as a Distinguished expert by MediFind in the treatment of Metaphyseal Chondrodysplasia Schmid Type. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Pseudoachondroplasia, Multiple Epiphyseal Dysplasia, Metaphyseal Chondrodysplasia Schmid Type, and Brachydactyly Mononen Type.

 
 
 
 
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KP
Katarzyna A. Pirog
Distinguished
Highly rated in
8
conditions

International Centre For Life

Biosciences Institute, Faculty Of Medical Sciences, Newcastle University, Central Parkway, 
Newcastle Upon Tyne, ENG, GB 

Katarzyna Pirog practices in Newcastle Upon Tyne, United Kingdom. Pirog is rated as a Distinguished expert by MediFind in the treatment of Metaphyseal Chondrodysplasia Schmid Type. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Pseudoachondroplasia, Metaphyseal Chondrodysplasia Schmid Type, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Schwartz-Jampel Syndrome.

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

What are the Latest Advances for Metaphyseal Chondrodysplasia Schmid Type?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.