GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, type 3

Disease characteristics

Excerpted from the GeneReview: Ehlers-Danlos Syndrome, Hypermobility Type
Ehlers-Danlos syndrome (EDS), hypermobility type is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft or velvety and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. Degenerative joint disease is common. Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising is common. Functional bowel disorders are likely underrecognized. Autonomic dysfunction, such as orthostatic intolerance, may also be seen. Aortic root dilation is typically of a mild degree with no increased risk of dissection in the absence of significant dilation. Psychological dysfunction, psychosocial impairment, and emotional problems are common.

Associated genes

Clinical features

  • Apnea
  • Umbilical hernia
  • Hirsutism
  • Irregular heart beat
  • Thin skin
  • Epicanthus
  • Gastrointestinal dysmotility
  • Soft skin
  • Microdontia
  • Dilatation of the ascending aorta
  • Arthralgia
  • Constipation
  • Striae distensae
  • Malabsorption
  • Myalgia
  • Abnormality of the menstrual cycle
  • Decreased fertility
  • Abnormality of the palate
  • Gingival overgrowth
  • Gingivitis
  • Ptosis
  • Decreased nerve conduction velocity
  • Hyperextensible skin
  • Atypical scarring of skin
  • Acrocyanosis
  • Keratoconjunctivitis sicca
  • Joint dislocation
  • Limitation of joint mobility
  • Joint hypermobility
  • Joint laxity
  • Mitral valve prolapse
  • Pes planus
  • Nausea and vomiting
  • Migraine
  • Vertigo
  • Sleep disturbance
  • Wormian bones
  • Scoliosis
  • Osteoarthritis
  • Osteolysis
  • Abnormality of the wrist
  • Elbow dislocation
  • Abnormality of the hip bone
  • Paresthesia
  • Venous insufficiency
  • Arterial dissection
  • Aplasia/Hypoplasia of the abdominal wall musculature
  • Abnormal tendon morphology
  • Cystocele
  • Decreased corneal thickness
Show all (50)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk