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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ehlers-Danlos syndrome hypermobility type


Other Names for this Disease

  • EDS3 (formerly)
  • Ehlers-Danlos syndrome type 3 (formerly)
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 (EDS) hypermobility type?

The signs and symptoms vary from mildly loose joints to musculoskeletal complications. Most often, this condition affects the joints and skin. An unusually large range of joint movement (hypermobility) is the most common symptom. Infants with hypermobile joints often appear to have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation, chronic pain, and early-onset arthritis. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly elastic (stretchy) and fragile. Affected individuals also tend to bruise easily.[1]
Last updated: 1/19/2012

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 dislocation 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 laxity -
Mitral valve prolapse -
Soft skin -
Striae distensae -

Last updated: 12/1/2014

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. Ehlers-Danlos syndrome. Genetics Home Reference. May 2006; http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome. Accessed 9/16/2014.


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