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Genetic and Rare Diseases Information Center (GARD)

Mixed connective tissue disease

Other Names for this Disease
  • MCTD
  • Sharp syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.


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What are the signs and symptoms of Mixed connective tissue disease?

People with mixed connective tissue disease (MCTD) have symptoms that overlap with several connective tissue disorders, including systemic lupus erythematosus, polymyositis, scleroderma, and rheumatoid arthritis.[1]

A condition called Raynaud's phenomenon sometimes occurs months or years before other symptoms of MCTD develop. Most people with MCTD have pain in multiple joints, and/or inflammation of joints (arthritis). Muscle weakness, fevers, and fatigue are also common.[1]

Other signs and symptoms may include:[2][1][3]
  • Accumulation of fluid in the tissue of the hands that causes puffiness and swelling (edema)
  • Skin findings including lupus-like rashes (including reddish brown patches), reddish patches over the knuckles, violet coloring of the eyelids, loss of hair (alopecia), and dilation of small blood vessels around the fingernails (periungual telangiectasia)
  • Dysfunction of the esophagus (hypomotility)
  • Abnormalities in lung function which may lead to breathing difficulties, and/or pulmonary hypertension
  • Heart involvement (less common in MCTD than lung problems) including pericarditis, myocarditis, and aortic insufficiency
  • Kidney disease
  • Neurologic abnormalities (in about 10 percent of people with MCTD) such as organic brain syndrome; blood vessel narrowing causing "vascular" headaches; a mild form of meningitis; seizures; blockage of a cerebral vessel (cerebral thrombosis) or bleeding; and/or various sensory disturbances in multiple areas of the body (multiple peripheral neuropathies)
  • Anemia and leukopenia (in 30 to 40 percent of cases)
  • Lymphadenopathy, enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and/or intestinal involvement in some cases
Last updated: 12/29/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for Mixed connective tissue disease. 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 gastric mucosa 90%
Acrocyanosis 90%
Arthritis 90%
Atypical scarring of skin 90%
Autoimmunity 90%
Chest pain 90%
Myalgia 90%
Nausea and vomiting 90%
Pulmonary fibrosis 90%
Respiratory insufficiency 90%
Skin rash 90%
Abnormality of temperature regulation 50%
Abnormality of the pleura 50%
Arthralgia 50%
Behavioral abnormality 50%
Joint swelling 50%
Keratoconjunctivitis sicca 50%
Myositis 50%
Xerostomia 50%
Abnormal tendon morphology 7.5%
Abnormality of coagulation 7.5%
Abnormality of the myocardium 7.5%
Abnormality of the pericardium 7.5%
Alopecia 7.5%
Aseptic necrosis 7.5%
Gastrointestinal hemorrhage 7.5%
Hemolytic anemia 7.5%
Hepatomegaly 7.5%
Leukopenia 7.5%
Limitation of joint mobility 7.5%
Mediastinal lymphadenopathy 7.5%
Meningitis 7.5%
Nephropathy 7.5%
Osteolysis 7.5%
Peripheral neuropathy 7.5%
Pulmonary hypertension 7.5%
Seizures 7.5%
Splenomegaly 7.5%
Subcutaneous hemorrhage 7.5%

Last updated: 7/1/2016

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.

  1. Mixed Connective Tissue Disease (MCTD). NORD. October 2007;
  2. Eric L Greidinger, MD. Mixed Connective-Tissue Disease. Medscape Reference. February 2013;
  3. Robert M Bennett, MD, FRCP, MACR. Clinical manifestations of mixed connective tissue disease. UpToDate. September 2014; Accessed 12/29/2014.

Other Names for this Disease
  • MCTD
  • Sharp syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.