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Disease Profile

Arthrochalasia Ehlers-Danlos syndrome

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

Infancy

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ICD-10

Q79.6

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)

Arthrochalasis multiplex congenita; Ehlers-Danlos syndrome type 7A (formerly); EDS7A (formerly);

Categories

Congenital and Genetic Diseases; Heart Diseases; Skin Diseases

Summary

Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility; congenital hip dislocation; fragile, hyperextensible skin; hypotonia; and kyphoscoliosis (kyphosis and scoliosis).[1][2] EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner.[3][4] Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[5]

Symptoms

The signs and symptoms of arthrochalasia Ehlers-Danlos syndrome (EDS) vary but may include:[2][3][1]

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
Abnormality of subcutaneous fat tissue
Abnormality of fatty tissue below the skin
0001001
Aphasia
Difficulty finding words
Losing words
Loss of words

[ more ]

0002381
Avascular necrosis of the capital femoral epiphysis
0005743
Coxa valga
0002673
Coxa vara
0002812
Dysphasia
0002357
Echolalia
Echoing another person's speech
0010529
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

0002827
Hip dysplasia
0001385
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin

[ more ]

0000974
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Muscle flaccidity
0010547
Muscular hypotonia
Low or weak muscle tone
0001252
Mutism
Inability to speak
Muteness

[ more ]

0002300
Scarring
0100699
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Thin skin
0000963
30%-79% of people have these symptoms
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
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Scoliosis
0002650
5%-29% of people have these symptoms
Femoral hernia
0100541
Inguinal hernia
0000023
Percent of people who have these symptoms is not available through HPO
Atrophic scars
Sunken or indented skin due to damage
0001075
Autosomal dominant inheritance
0000006
Breech presentation
Feet or buttocks of fetus positioned near opening of uterus
0001623
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Congenital bilateral hip dislocation
0008780
Delayed gross motor development
Delayed motor skills
0002194
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures

[ more ]

0002659
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Joint subluxation
0032153
Kyphosis
Hunched back
Round back

[ more ]

0002808
Malar flattening
Zygomatic flattening
0000272
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Mild short stature
0003502
Osteopenia
0000938
Poor wound healing
0001058
Premature osteoarthritis
Premature arthritis
0003088
Soft skin
0000977

Cause

Arthrochalasia EDS (aEDS) is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene.[6][4] These genes provide instructions for making a component of type I collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body. Type I collagen, specifically, is the most abundant form of collagen in the human body. Mutations in COL1A1 or COL1A2 lead to structural abnormalities in type I collagen molecules. This weakens tissues that are rich in type I collagen, such as the skin, bones, and tendons and causes the many signs and symptoms associated with aEDS.[7][8]

Diagnosis

A diagnosis of arthrochalasia EDS is typically based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in COL1A1 or COL1A2 can then be ordered to confirm the diagnosis. [3][1]

Collagen typing performed on a skin biopsy may be recommended if genetic testing is inconclusive. Collagen is a tough, fiber-like protein that makes up about a third of body protein. It is part of the structure of tendons, bones, and connective tissues. People with aEDS have abnormalities in type I collagen.[3][2]

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

    The treatment of arthrochalasia Ehlers-Danlos syndrome (aEDS) is focused on preventing serious complications and relieving associated signs and symptoms. For example, physical therapy may be recommended in children with severe hypotonia and delayed motor development. This treatment can also help improve joint stability. Assistive devices such as braces, wheelchairs, or scooters may be necessary depending on the severity of joint instability. Congenital hip dislocation and kyphoscoliosis (kyphosis and scoliosis) may require surgery. Because aEDS is associated with fragile skin, affected people, especially children, may need to wear protective bandages or pads over exposed areas, such as the knees, shins, and forehead. [5]

    Please speak to your healthcare provider if you have any questions about your personal medical management plan.

    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

      Social Networking Websites

      • The Ehlers-Danlos, Marfan and Related CTDs New England/MA Facebook Support Group offers educational and peer support through this forum.
      • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

        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

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Arthrochalasia Ehlers-Danlos syndrome. 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

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
            Ehlers-Danlos Syndrome
            Genetics of Ehlers-Danlos Syndrome
          • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
          • 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 Arthrochalasia Ehlers-Danlos syndrome. Click on the link to view a sample search on this topic.

            References

            1. Pauker SP & Stoler J. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. February 22, 2016; https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ehlers-danlos-syndromes.
            2. Klaassens M1, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT. Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. Clin Genet. August 2012; 82(2):121-130.
            3. Defendi GL. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. August, 2015; https://emedicine.medscape.com/article/943567-overview.
            4. Malfait F, Francomano C, Byers P et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet. March, 2017; 175(1):8-26. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31552/full.
            5. Pauker SP & Stoler J. Overview of the management of Ehlers-Danlos syndromes. UpToDate. 2016; https://www.uptodate.com/contents/overview-of-the-management-of-ehlers-danlos-syndromes.
            6. Fransiska Malfait, MD, PhD, Richard Wenstrup, MD, and Anne De Paepe, MD, PhD. Ehlers-Danlos Syndrome, Classic Type. GeneReviews. August 2011; https://www.ncbi.nlm.nih.gov/books/NBK1244/.
            7. COL1A2. Genetics Home Reference. November 2007; https://ghr.nlm.nih.gov/gene/COL1A2.
            8. COL1A1. Genetics Home Reference. April 2013; https://ghr.nlm.nih.gov/gene/COL1A1.

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