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Metatropic dysplasia


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Other Names:
Metatropic dwarfism; Metatropic dysplasia, nonlethal dominant
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary


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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 life threatening to mild. Signs and 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.[1][2][3] Metatropic dysplasia is caused by mutations in the TRPV4 gene and is inherited in an autosomal dominant manner.[3] Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.
Last updated: 6/12/2017

Symptoms Symptoms


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Metatropic dysplasia is a bone disorder with symptoms recognizable in infancy including short stature, a narrow chest with short ribs, and shortened arms and legs with "telephone" shaped long bones.[1] Other signs and symptoms may include:[4][2][1]
  • Joint restriction and contractures
  • Issues with the spine such as abnormal curvature (scoliosis and kyphosis), a long coccyx, and flattening of the bones of the spine (platyspondyly)
  • An abnormally shaped pelvis
  • Different facial features such as a prominent forehead, underdevelopment of the upper jaw, cheekbones and eye sockets (midface hypoplasia), and a squared-off jaw
  • Shortening of the fingers and toes (brachydactyly)
  • Damage to certain nerves in the body 
  • Arthritis 
  • Breathing issues due to spine, chest, and rib abnormalities 
Last updated: 6/12/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 47 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal cortical bone morphology 0003103
Abnormal enchondral ossification 0003336
Abnormal form of the vertebral bodies 0003312
Abnormality of the intervertebral disk 0005108
Abnormality of the ribs
Rib abnormalities
0000772
Coarse metaphyseal trabecularization 0100670
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
0005280
Halberd-shaped pelvis 0002826
High forehead 0000348
Hypoplastic cervical vertebrae 0008434
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Kyphosis
Hunched back
Round back
[ more ]
0002808
Long thorax
Long rib cage
0100818
Micromelia
Smaller or shorter than typical limbs
0002983
Narrow chest
Low chest circumference
Narrow shoulders
[ more ]
0000774
Scoliosis 0002650
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
0003510
Skeletal dysplasia 0002652
5%-29% of people have these symptoms
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs
[ more ]
0006703
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Fetal akinesia sequence 0001989
Flexion contracture
Flexed joint that cannot be straightened
0001371
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Low-set, posteriorly rotated ears 0000368
Peripheral axonal neuropathy 0003477
1%-4% of people have these symptoms
Arthrogryposis multiplex congenita 0002804
Percent of people who have these symptoms is not available through HPO
Abnormal metaphyseal vascular invasion 0003562
Absent primary metaphyseal spongiosa 0003332
Anisospondyly 0002879
Autosomal dominant inheritance 0000006
Brachydactyly
Short fingers or toes
0001156
Caudal appendage
Human tail
0002825
Dumbbell-shaped metaphyses
Dumbbell shaped wide portion of long bone
0002810
Enlarged joints 0003037
Epiphyseal dysplasia
Abnormal development of the ends of long bones in arms and legs
0002656
Flared femoral metaphysis 0002834
Flared humeral metaphysis
Flared wide portion of long bone of upper arm
0003911
Hyperplasia of the femoral trochanters 0002822
Long coccyx
Long tailbone
0002831
Platyspondyly
Flattened vertebrae
0000926
Relatively short spine 0002766
Respiratory failure 0002878
Short finger
Stubby finger
0009381
Short ribs 0000773
Showing of 47 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


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Metatropic dysplasia is a genetic disorder caused by mutations in the TRPV4 gene. Studies suggest that the TRPV4 gene codes for a protein that plays a role in a number of different functions in the body including the development of the bones and cartilage.[1]
Last updated: 6/12/2017

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment


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Treatment of this condition focuses on managing the skeletal concerns and maintaining the functioning of the lungs. Treatment may include the use of braces, physical therapy, and surgical correction of skeletal abnormalities.[2][3]
Last updated: 6/12/2017

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include mucopolysaccharidosis type IV and other types of spondylometaphyseal dysplasia, in particular spondylometaphyseal dysplasia, Kozlowski type (see these terms), an allelic disorder that shows important overlap with mild MD cases.
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • European Skeletal Dysplasia Network
    Institute of Genetic Medicine
    Newcastle University
    International Centre for Life
    Central Parkway
    New Castle upon Tyne
    NE1 3BZ, United Kingdom
    E-mail: info@esdn.org
    Website: http://www.esdn.org/eug/Home

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Metatropic dysplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Metatropic dysplasia:
    International Skeletal Dysplasia Registry (ISDR)
     
  • Greenberg Center for Skeletal Dysplasias
    Johns Hopkins University
    McKusick-Nathans Institute of Genetic Medicine
    600 North Wolfe Street
    Baltimore, MD 21287
    Telephone: 410-614-0977
    Website: https://www.hopkinsmedicine.org/institute-genetic-medicine/patient-care/genetics-clinics/about/greenberg-center-skeletal-dysplasia/

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Little People of America, Inc.
    617 Broadway #518
    Sonoma, CA 95476
    Toll-free: 1-888-572-2001
    Telephone: +1-714-368-3689
    Fax: +1-707-721-1896
    E-mail: info@lpaonline.org
    Website: https://www.lpaonline.org/
  • The MAGIC Foundation
    4200 Cantera Dr. #106
    Warrenville, IL 60555
    Toll-free: 800-362-4423
    Telephone: 630-836-8200
    Fax: 630-836-8181
    E-mail: contactus@magicfoundation.org
    Website: https://www.magicfoundation.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Metatropic dysplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Metatropic dysplasia. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I was diagnosed with a rare disease as a child. Recently, at age 21, I learned that I have metatropic dwarfism (also known as metatropic dysplasia). My doctors haven't been able to give me much information. Can you tell me more about this condition, including treatment options? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. metatropic dysplasia. Genetics Home Reference. April 2012; https://ghr.nlm.nih.gov/condition/metatropic-dysplasia.
  2. Andreucci E. Metatropic Dysplasia. Orphanet. January 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635.
  3. Schindler A. Sumner C, Hoover-Fong JE. TRPV4-Associated Disorders. GeneReviews. May 15, 2014; https://www.ncbi.nlm.nih.gov/books/NBK201366/.
  4. McKusick VA. Metatropic Dysplasia. Online Mendelian Inheritance in Man (OMIM). March 4, 2015; https://www.omim.org/entry/156530.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
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