What is ehlers danlos hypermobility type

Sometimes the faulty gene is not inherited, but occurs in the person for the first time. The diagnosis is made based on a person's medical history and a physical examination. It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening bleeding.

You do not usually need to worry if you only have a few symptoms and they're not causing any problems. Joint hypermobility, for example, is relatively common, affecting around 1 in 30 people. So it's unlikely to be caused by EDS if you do not have any other symptoms.

Your GP may refer you to a joint specialist rheumatologist if you have problems with your joints and they suspect EDS. If there's a possibility you may have 1 of the rare types of EDS, your GP can refer you to your local genetics service for an assessment. The local genetics specialist will ask about your medical history, family history, assess your symptoms and may carry out a genetic blood test to confirm the diagnosis.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Hypermobile Ehlers-Danlos syndrome. You can help advance rare disease research! This site is in-development and may not reflect the final version. Preview the new GARD site. Other Names:.

Congenital and Genetic Diseases ; Skin Diseases. This disease is grouped under:. Ehlers-Danlos syndromes. Summary Summary. Symptoms Symptoms. Showing of 57 View All. Persistent blue color of hands, feet, or parts of face. Joint pain. Dislocations of the elbows. Elbow dislocations. Dislocated hips. Dislocation of hip. Hyperelastic skin. Skin hyperelasticity. Stretchable skin. Joints move beyond expected range of motion.

Muscle ache. Muscle pain. Difficulty sleeping. Trouble sleeping. Dizzy spell. Extra bones within cranial sutures. Abnormal heart rate. Heart rhythm disorders. Irregular heart beat. Irregular heartbeat. Intestinal malabsorption. Intermittent migraine headaches. Migraine headache. Migraine headaches. Degenerative joint disease. Flat feet. Flat foot. Abnormality of the palate.

Abnormality of the roof of the mouth. Abnormalities of the wrists. Bulging of wall of large artery located above heart. Atypical scarring. Bladder hernia. Dropped bladder. Abnormal fertility. Eye folds. Prominent eye folds. Acid reflux. Acid reflux disease. Gum enlargement. Inflamed gums. Red and swollen gums. This method is fast and cost-effective and it can also be used to determine the pathogenic status of a variant of uncertain significance. Molecular analysis can follow if the urine test is normal.

Kyphoscoliotic EDS is inherited in the autosomal recessive pattern. There are fourteen minor criteria. Minimal criteria required to suggest BCS are the first major criterion, plus either: at least one other major criterion; or three minor criteria.

A final diagnosis requires confirmation through molecular testing. At least one family with a clinical BCS phenotype did not harbor mutations in these genes, suggesting that at least one other gene might be associated with BCS. Brittle cornea syndrome is inherited in the autosomal recessive pattern. Minimal criteria required to suggest a diagnosis for spEDS are the first and second major criteria, plus characteristic radiographic abnormalities and at least three minor criteria either general or gene-specific.

Spondylodysplastic EDS is inherited in the autosomal recessive pattern. Final diagnosis requires confirmation through molecular testing. There are fifteen minor criteria. The minimum criteria required to suggest mcEDS are: at birth or in early childhood, major criteria 1 and 2; in adolescence and adulthood, major criteria 1 and 3. A few mutations have been identified in the DSE gene in patients with a similar phenotype.

Musculocontractural EDS is inherited in the autosomal recessive pattern. The minimal criteria required to suggest a diagnosis of mEDS are the first major criterion plus either: one other major criterion, or three minor criteria.

A final diagnosis requires molecular testing; mEDS is caused by heterozygous or biallelic mutations in COL12A1 , and the clinical phenotype highly overlaps with collagen type VI-related myopathies.

It is currently unknown whether other, yet to be discovered genes, are associated with this phenotype. Managing and monitoring the condition improves outlook and requires specialists from different disciplines. In March some significant changes were made to the way the Ehlers-Danlos syndromes are classified and diagnosed.

Thirteen types of EDS are now recognised, most of which are very rare. The gene mutations causing the conditions have been identified, and can be tested for, in all types except for the most common type, hypermobile EDS.

Hypermobile EDS and hypermobility spectrum disorders. Video: Overview of new classification of EDS. Video: The genetics behind connective tissue. Video: Hypermobility EDS — an update. All types In March some significant changes were made to the way the Ehlers-Danlos syndromes are classified and diagnosed.