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Genetic and Rare Diseases Information Center (GARD)

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Ehlers-Danlos syndrome, hypermobility type

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Other Names for this Disease
  • Benign joint hypermobility syndrome
  • BJHS
  • EDS III
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of Ehlers-Danlos syndrome, hypermobility type?

The signs and symptoms of Ehlers-Danlos syndrome (EDS), hypermobility type vary but may include:[1][2]
  • 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
  • Osteoporosis
  • 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)
Last updated: 5/25/2015

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.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the hip bone 90%
Acrocyanosis 90%
Arthralgia 90%
Elbow dislocation 90%
Hyperextensible skin 90%
Joint hypermobility 90%
Myalgia 90%
Sleep disturbance 90%
Vertigo 90%
Wormian bones 90%
Arrhythmia 50%
Constipation 50%
Decreased nerve conduction velocity 50%
Malabsorption 50%
Migraine 50%
Nausea and vomiting 50%
Pes planus 50%
Thin skin 50%
Abnormal tendon morphology 7.5%
Abnormality of the menstrual cycle 7.5%
Abnormality of the palate 7.5%
Abnormality of the wrist 7.5%
Aplasia/Hypoplasia of the abdominal wall musculature 7.5%
Apnea 7.5%
Arterial dissection 7.5%
Atypical scarring of skin 7.5%
Cystocele 7.5%
Decreased corneal thickness 7.5%
Decreased fertility 7.5%
Dilatation of the ascending aorta 7.5%
Epicanthus 7.5%
Gastrointestinal dysmotility 7.5%
Gingival overgrowth 7.5%
Gingivitis 7.5%
Hypertrichosis 7.5%
Keratoconjunctivitis sicca 7.5%
Limitation of joint mobility 7.5%
Microdontia 7.5%
Osteoarthritis 7.5%
Osteolysis 7.5%
Paresthesia 7.5%
Ptosis 7.5%
Scoliosis 7.5%
Umbilical hernia 7.5%
Venous insufficiency 7.5%
Autosomal dominant inheritance -
Joint dislocation -
Joint laxity -
Mitral valve prolapse -
Soft skin -
Striae distensae -

Last updated: 7/1/2015

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.


References
  1. Levy HP. Ehlers-Danlos Syndrome, Hypermobility Type. GeneReviews. September 13, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1279/.
  2. Susan P Pauker, MD, FACMG; Joan Stoler, MD. Clinical manifestations and diagnosis of Ehlers-Danlos syndromes. UpToDate. December 2014; Accessed 5/21/2015.


Other Names for this Disease
  • Benign joint hypermobility syndrome
  • BJHS
  • EDS III
  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.