Learn About Metatropic Dysplasia

What is the definition of Metatropic Dysplasia?

Metatropic dysplasia is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is derived from the Greek word "metatropos," which means "changing patterns." This name reflects the fact that the skeletal abnormalities associated with the condition change over time.

What are the causes of Metatropic Dysplasia?

Metatropic dysplasia is caused by mutations in the TRPV4 gene, which provides instructions for making a protein that acts as a calcium channel. The TRPV4 channel transports positively charged calcium atoms (calcium ions) across cell membranes and into cells. The channel is found in many types of cells, but little is known about its function. Studies suggest that it plays a role in the normal development of cartilage and bone. This role would help explain why TRPV4 gene mutations cause the skeletal abnormalities characteristic of metatropic dysplasia. Mutations in the TRPV4 gene appear to overactivate the channel, increasing the flow of calcium ions into cells. However, it remains unclear how changes in the activity of the calcium channel lead to the specific features of the condition.

How prevalent is Metatropic Dysplasia?

Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature.

Is Metatropic Dysplasia an inherited disorder?

Metatropic dysplasia is considered an autosomal dominant disorder because one mutated copy of the TRPV4 gene in each cell is sufficient to cause the condition. Most cases of metatropic dysplasia are caused by new mutations in the gene and occur in people with no history of the disorder in their family. In a few reported cases, an affected person has inherited the condition from an affected parent.

Who are the top Metatropic Dysplasia Local Doctors?
Elite in Metatropic Dysplasia
Elite in Metatropic Dysplasia
Lausanne, VD, CH 

Andrea Furga-Superti practices in Lausanne, Switzerland. Furga-Superti and is rated as an Elite expert by MediFind in the treatment of Metatropic Dysplasia. Her top areas of expertise are Diastrophic Dysplasia, Achondrogenesis, Metatropic Dysplasia, and Acromesomelic Dysplasia.

Distinguished in Metatropic Dysplasia
Pediatric Orthopedics | Orthopedics
Distinguished in Metatropic Dysplasia
Pediatric Orthopedics | Orthopedics
1600 Rockland Rd, Nemours Dupont Pediatrics, 
Wilmington, DE 
Languages Spoken:
English
Accepting New Patients

William Mackenzie is a Pediatric Orthopedics specialist and an Orthopedics provider in Wilmington, Delaware. Dr. Mackenzie and is rated as a Distinguished provider by MediFind in the treatment of Metatropic Dysplasia. His top areas of expertise are Brachydactyly Mononen Type, Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome), Achondroplasia, Osteotomy, and Spinal Fusion. Dr. Mackenzie is currently accepting new patients.

 
 
 
 
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Distinguished in Metatropic Dysplasia
Medical Genetics | Pediatrics
Distinguished in Metatropic Dysplasia
Medical Genetics | Pediatrics
A.i. Dupont Hospital For Children, 1600 Rockland Road, 
Wilmington, DE 
Languages Spoken:
English
Accepting New Patients

Michael Bober is a Medical Genetics specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Bober and is rated as a Distinguished provider by MediFind in the treatment of Metatropic Dysplasia. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Myringotomy. Dr. Bober is currently accepting new patients.

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Who are the sources who wrote this article ?

Published Date: April 01, 2012
Published By: National Institutes of Health