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Disease Profile

Metatropic dysplasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Neonatal

ICD-10

Q77.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Metatropic dwarfism; Metatropic dysplasia, nonlethal dominant

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

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 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.

Symptoms

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 

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.

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
Do you have updated information on this disease? We want to hear from you.

Cause

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]

Diagnosis

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 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]

    Organizations

    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

      Learn more

      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.

          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; https://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.

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