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Disease Profile
Acromesomelic dysplasia Maroteaux 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.
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Age of onset
Infancy
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.
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)
AMDM; Acromesomelic dwarfism Maroteux type
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Orpha Number: 40
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Acromesomelia | 0003086 | |
Beaking of vertebral bodies | 0004568 | |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
Short fingers or toes
|
0001156 | |
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 |
Disproportionate |
0003498 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Frontal bossing | 0002007 | |
Hyperlordosis |
Prominent swayback
|
0003307 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Ovoid vertebral bodies | 0003300 | |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
0002650 | ||
Sprengel anomaly |
High shoulder blade
|
0000912 |
Vertebral wedging |
Wedge-shaped vertebrae
|
0008422 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Broad finger |
Broad fingers
Wide fingers
[ more ] |
0001500 |
Broad metacarpals |
Wide long bones of hand
|
0001230 |
Broad metatarsal |
Wide long bone of foot
|
0001783 |
Broad phalanx |
Wide digital bones
|
0006009 |
Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
Hypoplasia of the radius |
Underdeveloped outer large forearm bone
|
0002984 |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] |
0001388 |
Limited elbow extension |
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] |
0001377 |
Long hallux |
Long big toe
|
0001847 |
Lower thoracic kyphosis |
Round mid-back
|
0004633 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Radial bowing |
Bowing of outer large bone of the forearm
|
0002986 |
Redundant skin on fingers |
Extra skin on fingers
|
0007516 |
Short metacarpal |
Shortened long bone of hand
|
0010049 |
Short metatarsal |
Short long bone of foot
|
0010743 |
Short nail |
Short nails
|
0001799 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Thoracolumbar interpediculate narrowness | 0008484 | |
Thoracolumbar kyphosis | 0005619 |
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.
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 Acromesomelic dysplasia Maroteaux type. Click on the link to view a sample search on this topic.