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Disease Profile

Acromesomelic dysplasia Maroteaux 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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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.

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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)

AMDM; Acromesomelic dwarfism Maroteux type

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 40

Definition
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .

Visit the Orphanet disease page for more resources.

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
Brachydactyly
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 short stature
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
Scoliosis
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
Autosomal recessive inheritance
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.