Ehlers-Danlos syndrome, hypermobility type
- EDS3 (formerly)
- Ehlers-Danlos syndrome type 3 (formerly)
- 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 osteoartritis
- Gastrointestinal issues
- 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)
- Pregnancy may be complicated by premature rupture of membranes or rapid labor and delivery (less than 4 hours)
The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, hypermobility type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. GeneReviews. September 13, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1279/.
- Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.