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Disease Profile
Metaphyseal chondrodysplasia Schmid type
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
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 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 | ||
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.
Related diseases
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
|
---|
Hypochondroplasia (see this term) and sequelae from rickets are the principle differential diagnoses. Other metaphyseal dysplasias (such as cartilage-hair hypoplasia or Jansen type metaphyseal chondrodysplasia; see these terms) can be excluded as they are associated with very short stature and other features.
Visit the Orphanet disease page for more information.
|
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
-
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: [email protected]
Website: https://www.lpaonline.org/
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
- Briggs, Michael. Metaphyseal Chondrodysplasia, Schmid Type. National Organization for Rare Disorders. 2016; https://rarediseases.org/rare-diseases/metaphyseal-chondrodysplasia-schmid-type/.
- Metaphyseal Chondrodysplasia, Schmid Type; MCDS. Online Mendelian Inheritance in Man. August, 2016; https://www.omim.org/entry/156500.
- Le Merrer, Martine. Metaphyseal chondrodysplasia, Schmid type. Orphanet. November, 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=174.