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Disease Profile
Arthrochalasia Ehlers-Danlos syndrome
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
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.
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)
Arthrochalasis multiplex congenita; Ehlers-Danlos syndrome type 7A (formerly); EDS7A (formerly);
Categories
Congenital and Genetic Diseases; Heart Diseases; Skin Diseases
Summary
Arthrochalasia Ehlers-Danlos
Symptoms
- Severe joint hypermobility which may lead to recurrent joint dislocations and subluxations (partial dislocation)
- Congenital hip dislocation
- Fragile, hyperextensible skin with easy bruising
Hypotonia - Delayed motor development
- Kyphoscoliosis (kyphosis and
scoliosis ) - Mild osteopenia (low bone density)
- Characteristic facial features (i.e. wide-spaced eyes, epicanthal folds, large anterior fontanelle and
micrognathia )
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 |
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 |
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 |
0000006 | ||
Breech presentation |
Feet or buttocks of fetus positioned near opening of uterus
|
0001623 |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
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
Diagnosis
Collagen typing performed on a skin biopsy may be recommended if genetic testing is inconclusive. Collagen is a tough, fiber-like
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
Please speak to your healthcare provider if you have any questions about your personal medical management plan.
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
|
---|
Differential diagnosis includes Larsen syndrome, classical EDS (cEDS), dermatosparaxis EDS (dEDS), kyphoscoliotic EDS (kEDS) and musculocontractural EDS (mcEDS), Loeys-Dietz syndrome and autosomal recessive cutis laxa type 2B.
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
-
Ehlers-Danlos Society
PO Box 87463
Montgomery Village, MD 20886
Telephone: 410-670-7577
E-mail: [email protected], https://www.ehlers-danlos.com/eds-helpline/
Website: https://www.ehlers-danlos.com/ -
Ehlers-Danlos Support UK
PO Box 748
Borehamwood , WD6 9HU United Kingdom
Toll-free: 0800 907 8518 (in the UK)
Telephone: 0208 736 5604
E-mail: [email protected]
Website: https://www.ehlers-danlos.org/ -
The Ehlers-Danlos Society – Europe Office
Office 7
35-37 Ludgate Hill
London, EC4M 7JN United Kingdom
Telephone: +44 203 887 6132
E-mail: [email protected], https://www.ehlers-danlos.com/eds-helpline/
Website: https://www.ehlers-danlos.com/ -
The Zebra Network
1122 Kenilworth Drive
Suite 307
Towson, MD 21204
Telephone: 410-825-0995
E-mail: [email protected]
Website: https://thezebranetwork.org/
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
- 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.
- 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.
- Defendi GL. Genetics of Ehlers-Danlos Syndrome. Medscape Reference. August, 2015; https://emedicine.medscape.com/article/943567-overview.
- 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.
- 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.
- 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/.
- COL1A2. Genetics Home Reference. November 2007; https://ghr.nlm.nih.gov/gene/COL1A2.
- COL1A1. Genetics Home Reference. April 2013; https://ghr.nlm.nih.gov/gene/COL1A1.
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