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Disease Profile
Hypermobile 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.
1-5 / 10 000
Age of onset
All ages
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)
EDS3 (formerly); Ehlers-Danlos syndrome type 3 (formerly); Ehlers-Danlos syndrome, hypermobility type;
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Hypermobile Ehlers-Danlos
Symptoms
- Joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints
- Frequent joint dislocations and subluxations (partial dislocation), often affecting the shoulder, kneecap, and/or temporomandibular joint (joint that connects the lower jaw to the skull)
- Soft, smooth skin that may be slightly elastic (stretchy) and bruises easily
- Chronic musculoskeletal (muscle and bone) pain
- Early-onset osteoarthritis
Osteoporosis - Gastrointestinal issues such as dysmotility, bloating, nausea, vomiting, heartburn, constipation, or hiatal hernia (which can also cause issues such as heartburn or reflux)
- Dysfunction of the autonomic nervous system
- Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body)
- Increased risk of pelvic prolapse, painful menstruation (dysmenorrhea), and painful intercourse (dyspareunia) in women
- Increased risk of pregnancy complications such as premature rupture of membranes or rapid labor and delivery (less than 4 hours)
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 | |||
Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 | |
Arthralgia |
Joint pain
|
0002829 | |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 | |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 | |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] |
0000974 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 | |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 | |
Vertigo |
Dizzy spell
|
0002321 | |
Wormian bones |
Extra bones within cranial sutures
|
0002645 | |
30%-79% of people have these symptoms | |||
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 | |
Constipation | 0002019 | ||
Decreased nerve conduction velocity | 0000762 | ||
Depressivity |
Depression
|
0000716 | |
Malabsorption |
Intestinal malabsorption
|
0002024 | |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 | |
Nausea and vomiting | 0002017 | ||
Osteoarthritis |
Degenerative joint disease
|
0002758 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 | |
Soft skin | 0000977 | ||
Thin skin | 0000963 | ||
5%-29% of people have these symptoms | |||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 | |
Abnormality of the menstrual cycle | 0000140 | ||
Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 | |
Anorectal anomaly | 0012732 | ||
Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ] |
0010318 | |
Apnea | 0002104 | ||
Arterial dissection | 0005294 | ||
Ascending tubular aorta aneurysm |
Bulging of wall of large artery located above heart
|
0004970 | |
Atypical scarring of skin |
Atypical scarring
|
0000987 | |
Cystocele |
Bladder hernia
Dropped bladder
[ more ] |
0100645 | |
Decreased fertility |
Abnormal fertility
|
0000144 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 | |
Gastrointestinal dysmotility | 0002579 | ||
Gingival overgrowth |
Gum enlargement
|
0000212 | |
Gingivitis |
Inflamed gums
Red and swollen gums
[ more ] |
0000230 | |
Inguinal hernia | 0000023 | ||
Keratoconjunctivitis sicca |
Dry eyes
|
0001097 | |
Keratoconus |
Bulging cornea
|
0000563 | |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 | |
Microdontia |
Decreased width of tooth
|
0000691 | |
Osteolysis |
Breakdown of bone
|
0002797 | |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 | |
Drooping upper eyelid
|
0000508 | ||
0002650 | |||
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 | |
Tendon rupture |
Rupture of tendons
Ruptured tendon
[ more ] |
0100550 | |
Umbilical hernia | 0001537 | ||
Venous insufficiency |
Poorly functioning veins
|
0005293 | |
Percent of people who have these symptoms is not available through HPO | |||
0000006 | |||
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ] |
0001373 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
Criteria 1: Generalized joint hypermobility (small and large joints) which is assessed by using the Beighton Score system and a questionnaire. Criteria 2: Two or more of the following features must be present (A&B, A&C, B&C, or A&B&C): Feature A—systemic manifestations of a more generalized 1. Unusually soft or velvety skin Feature B—positive Feature C—musculoskeletal complications (must have at least 1 of 3 ): 1. Musculoskeletal pain in 2 or more limbs, recurring daily for at least 3 months Criteria 3: All these prerequisites must be met: absence of unusual skin fragility, exclusion of other heritable and acquired connective Other problems (which are not necessarily present) include recurrent joint dislocations, chronic joint/limb pain, and positive family history.[8] Making the diagnosis can sometimes be complicated by the fact that joint hypermobility is more common in females and young children. Also, joint hypermobility may lessen with age, especially with the development of There is a range of conditions which can accompany hEDS, although there is not enough data for them to become part of the diagnostic criteria. While they’re associated with hEDS, they’re not proven to be the result of hEDS and they’re not specific enough to be criteria for diagnosis. Some of these include sleep disturbance, fatigue, postural orthostatic tachycardia, functional gastrointestinal disorders, dysautonomia, anxiety, and depression. These conditions are sometimes more debilitating than the joint symptoms as they often impair daily life, and should be considered and treated.[9] GeneReviews (see below) offers more detailed information regarding the treatment and management of hypermobile EDS. Please speak to your healthcare provider if you have any questions about your personal medical management plan. 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. 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. 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. Rare Ophthalmology News |