Metatropic dysplasia | About the Disease (original) (raw)
National Center for Advancing Translational Sciences
Summary
Metatropic dysplasia is a skeletal disorder characterized by short stature, shortened arms and legs, and a long narrow chest. The signs and symptoms of this condition can vary from mild to serious. Symptoms may include worsening abnormal curvature of the spine (scoliosis and kyphosis), flattening of the bones of the spine (platyspondyly), and restriction of certain joints in the body. Some individuals are additionally born with an elongated tailbone known as a coccygeal tail. Metatropic dysplasia is caused by genetic changes in the TRPV4 gene and is inherited in an autosomal dominant manner.
Summary
Metatropic dysplasia is a skeletal disorder characterized by short stature, shortened arms and legs, and a long narrow chest. The signs and symptoms of this condition can vary from mild to serious. Symptoms may include worsening abnormal curvature of the spine (scoliosis and kyphosis), flattening of the bones of the spine (platyspondyly), and restriction of certain joints in the body. Some individuals are additionally born with an elongated tailbone known as a coccygeal tail. Metatropic dysplasia is caused by genetic changes in the TRPV4 gene and is inherited in an autosomal dominant manner.Metatropic dysplasia is a skeletal disorder characterized by short stature, shortened arms and legs, and a long narrow chest. The signs and symptoms of this condition can vary from mild to serious. Symptoms may include worsening abnormal curvature of the spine (scoliosis and kyphosis), flattening of the bones of the spine (platyspondyly), and restriction of certain joints in the body. Some individuals are additionally born with an elongated tailbone known as a coccygeal tail. Metatropic dysplasia is caused by genetic changes in the TRPV4 gene and is inherited in an autosomal dominant manner.
Resource(s) for Medical Professionals and Scientists on This Disease:
- Orphanet provides GARD with information for this disease.
- RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature.
- GeneReviews provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
About Metatropic dysplasia
Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:
- **Population Estimate:**Fewer than 5,000 people in the U.S. have thisdisease.
- **Symptoms:**May start to appear during Pregnancy and as a Newborn.
- **Cause:**This disease is caused by a change in the genetic material (DNA).
- **Organizations:**Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
- **Categories:**Birth DefectsGenetic Diseases
When Do Symptoms of Metatropic dysplasia Begin?
Symptoms of this disease may start to appear during Pregnancy and as a Newborn.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Symptoms may start to appear during Pregnancy and as a Newborn.
What Causes This Disease?
Genetic Mutations
Can This Disease Be Passed Down From Parent to Child?
Yes. It is possible for a biological parent to pass down genetic mutations that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team. This tool from the Surgeon General can help you collect your family health history.
There are multiple ways, or patterns, a disease can be inherited depending on the gene(s) involved. Based on GARD's current data, this disease can be inherited in the following pattern(s):
Autosomal Dominant
How Can Patient Organizations Help?
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
- Ways to connect to others and share personal stories
- Easy-to-read information
- Up-to-date treatment and research information
- Patient registries
- Lists of specialists or specialty centers
- Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD.
Patient Organizations
6 Organizations
Organization Name
Who They Serve
Helpful Links
Country
Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
- Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
- Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Why Participate in Clinical Studies?
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
- Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
- Observational studies involve recording changes over time among a specific group of people in their natural settings. Learn more about clinical trials from this U.S. Food & Drug Administration webpage.Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
- Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
- Observational studies involve recording changes over time among a specific group of people in their natural settings. Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Why Participate in Clinical Studies?
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.
To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
Join the All of Us Research Program!
The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases
Information Center
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases
Information Center
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Use the contact form to send your questions to a GARD Information Specialist.
Please allow 2 to 10 business days for us to respond.
Learn about symptoms, cause, support, and research for a rare disease.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Last Updated: September 2024