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Disease Profile

Metaphyseal chondrodysplasia Schmid type

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.

Unknown

Age of onset

Childhood

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ICD-10

Q78.5

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)

MCDS

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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.[1][2] MCDS is caused by a mutation in one of the collagen genes known as COL10A1. The mutation may be inherited from a parent or may happen for the first time in an affected individual.[1][2] The MCDS mutation is passed on in an autosomal dominant manner.[1][2][3] Treatment may include physical therapy and/or orthopedic surgery and often requires a team of specialists. Early intervention is important to help children with MCDS reach their potential.[1]

Symptoms

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
Coxa vara
0002812
Distal femoral metaphyseal abnormality
Abnormality of wide portion of outermost thighbone
0030299
Limb undergrowth
limb shortening
Short limb
Short limbs

[ more ]

0009826
Thick growth plates
0025369
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

0002515
30%-79% of people have these symptoms
Abnormalities of the metaphyses of the hand
Abnormality of the wide portion of the hand bone
0005923
Anterior rib cupping
0000907
Broad proximal phalanges of the hand
Broad innermost finger bones of the hand
Wide innermost finger bones of the hand

[ more ]

0009852
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism

[ more ]

0008873
Distal femoral metaphyseal irregularity
0045079
Femoral bowing
Bowed thighbone
0002980
Flared metaphysis
Flared wide portion of long bone
0003015
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Hip dysplasia
0001385
Metaphyseal cupping of metacarpals
Cupping of wide portion of long bone of hand
0006028
Metaphyseal cupping of proximal phalanges
0006208
Osteosclerosis of ribs
Increased bone density in ribs
0006634
Proximal femoral metaphyseal irregularity
0003411
Short tubular bones of the hand
0001248
Widened proximal tibial metaphyses
Wide innermost wide portion of shankbone bone
Wide innermost wide portion of shinbone bone

[ more ]

0005028
5%-29% of people have these symptoms
Arthralgia
Joint pain
0002829
Irregular vertebral endplates
0003301
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Obesity
Having too much body fat
0001513
Platyspondyly
Flattened vertebrae
0000926
Radial metaphyseal irregularity
0004019
Ulnar metaphyseal irregularity
0004042
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Broad middle phalanx of finger
Broad middle finger bones
0009844
Distal tibial bowing
0006414
Enlargement of the proximal femoral epiphysis
Enlarged end part of innermost thighbone
0003371
Irregular acetabular roof
0008833
Metaphyseal chondrodysplasia
0005871
Mild short stature
0003502
Proximal femoral metaphyseal abnormality
Abnormal wide portion of innermost thighbone
0006431
Short distal phalanx of finger
Short outermost finger bone
0009882
Short middle phalanx of finger
Short middle bone of finger
0005819

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.

    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

      • 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

        • 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 Metaphyseal chondrodysplasia Schmid type. Click on the link to view a sample search on this topic.

          References

          1. Briggs, Michael. Metaphyseal Chondrodysplasia, Schmid Type. National Organization for Rare Disorders. 2016; https://rarediseases.org/rare-diseases/metaphyseal-chondrodysplasia-schmid-type/.
          2. Metaphyseal Chondrodysplasia, Schmid Type; MCDS. Online Mendelian Inheritance in Man. August, 2016; https://www.omim.org/entry/156500.
          3. Le Merrer, Martine. Metaphyseal chondrodysplasia, Schmid type. Orphanet. November, 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=174.