Its exact mechanism of transfer is not defined but is considered to be autosomal. Thirteen types of EDS are now recognised, most of which are very rare. Ehlers-Danlos Syndrome is regarded as a genetic problem. As this is a clinical diagnosis, it’s important to be relatively confident that the diagnosis is not instead one of the many other disorders of connective tissue. Pain in neck muscles and jaw pain can also occur. A Framework for the Classification of Joint Hypermobility and Related Conditions, A Framework for the Classification of Joint Hypermobility and Related Conditions (for Non-experts), Hypermobile Ehlers-Danlos Syndrome (a.k.a. Spontaneous sigmoid colon perforation in the absence of known diverticular disease or other bowel pathology; Uterine rupture during the third trimester in the absence of previous C-section and/or severe peripartum perineum tears; and. That’s why it affects multiple systems. Group B: Disorders of collagen folding and collagen crosslinking, comprised of kEDS-PLOD1 and kEDSS-FKB14. Most individuals diagnosed with the syndrome have an affected parent. Looking through the list of types might seem a little daunting, but for the majority of individuals the diagnosis is most likely to be the Hypermobile type (hEDS), followed by the Classical (cEDS), then the Vascular type (vEDS). Minimal clinical standards suggesting vEDS diagnostic studies should be performed are: a family history of the disorder, arterial rupture or dissection in individuals less than 40 years of age; unexplained sigmoid colon rupture: or spontaneous pneumothorax in the presence of other features consistent with vEDS. PresenterDr Clair Francomano, Clinical Geneticist and Director of Adult Genetics, Harvey Institute of Human Genetics, Greater Baltimore Medical Center, USA. A minority are more mildly affected. Dysautonomia associated headaches involve lightheadedness, faintness and dizziness can occur in 88% EDS patients. Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how they affect the body and in their genetic causes. Patients with vEDS typically have a heterozygous mutation in the COL3A1 gene, with the rare exception of specific heterozygous arginine-to-cysteine substitution mutations in COL1A1 that are also associated with vascular fragility and mimic COL3A1-vEDS. Minimal criteria for aEDS are congenital bilateral hip dislocation (major criterion 1) plus either: skin hyperextensibility (major criterion 3); or severe GJH (major criterion 2) with at least two minor criteria. (For information about the hypermobility spectrum disorders, please visit “About HSD”.). Ehlers-Danlos syndrome patients are more liable to depression and anxiety that can aggravate pain. Group D: Disorders of glycosaminoglycan biosynthesis, comprised of spEDS-B4GALT7, spEDS-b3GALT6, mcEDS-CHST14, and mcEDS-DSE. Since it is a genetic problem, its diagnosis is very difficult because the exact culprit gene(s) are yet unidentified.

Severe progressive cardiac-valvular problems (aortic valve, mitral valve); Skin involvement: skin hyperextensibility, atrophic scars, thin skin, easy bruising; and. Absence of a causative mutation in COL1A1 or COL1A2 that leads to complete or partial deletion of the exon 6 of either gene excludes the diagnosis of aEDS. Cause. At the other end of our spectrum is hEDS, and in between falls a range of hypermobility-related conditions called hypermobility spectrum disorders (HSD). EDS involves hypermobility in joints of elbows, knees, toes, fingers, skin problems, easy bruising of the skin, long-term pain in muscles and bones that are non-responsive to regular pain killers. Each EDS subtype has a set of clinical criteria that help guide diagnosis; a patient’s physical signs and symptoms will be matched up to the major and minor criteria to identify the subtype that is the most complete fit. 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).

For information on COL1A1-cEDS, please see The Ehlers-Danlos Syndromes, Rare Types.

Many people do not fully meet the new diagnostic criteria for hEDS but their hypermobility still causes problems for them. The exact gene(s) behind EDS are not found yet.