Acronym EDSCL2 Synonyms EDS2 EDS II Ehlers-Danlos syndrome, type II Ehlers-Danlos syndrome 2 Ehlers-Danlos syndrome mild classic type Ehlers-Danlos syndrome mitis type Keywords Any medical or genetic information present in this entry is provided for research [uniprot.org]

Hypermobile Ehlers-Danlos presents with very similar symptoms to the classic form of the syndrome – the loose joints, susceptibility to bruising, muscle pain and fatigue, and heart valve issues. [fdna.health]

In most vertebrate tissues, such as skin, tendon, and bone, it is present mainly as [α1(V)]2α2(V) heterotrimers. The α1(V)3 homotrimers may exist in normal tissues, whereas the α1(V)α2(V)α3(V) heterotrimers are present mainly in placenta. [nature.com]

Yearly echocardiogram is warranted if an abnormality such as aortic dilatation or mitral valve prolapse is present. [ncbi.nlm.nih.gov]

The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present. [medlineplus.gov]

• Disability

  Community Resources The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. [rarediseases.info.nih.gov]

  For some, the condition is relatively mild, while for others their symptoms can be disabling. The different types of EDS are caused by faults in certain genes that make connective tissue weaker. [nhs.uk]

  Chronic pain, distinct from that associated with acute dislocations or advanced osteoarthritis, is a serious complication of the condition and can be both physically and psychologically disabling. Easy bruising is common. [nature.com]

  It is important to identify as early in life as possible as it carries consequences of physical disability with older age. [rarediseases.org]

• Developmental Delay

  This subtype is especially associated with developmental delay and muscular weakness plus hypotonia. [rarediseases.org]

• Mitral Valve Prolapse

  Additional variable features include gastrointestinal and genitourinary manifestations (bowel rupture, gut dysmotility, cryptorchidism, and hernias), vascular complications (mitral valve prolapse and aortic root dilation), and skeletal anomalies. [malacards.org]

  Mitral valve prolapse and (less frequently) tricuspid valve prolapse may occur. Stringent criteria should be used for the diagnosis of mitral valve prolapse. [ncbi.nlm.nih.gov]

  valve prolapse 0001634 Muscle fiber splitting 0003555 Precocious atherosclerosis 0004416 Proximal amyotrophy Wasting of muscles near the body 0007126 Spina bifida occulta 0003298 Stroke 0001297 Percent of people who have these symptoms is not available [rarediseases.info.nih.gov]

  Mitral valve prolapse and, less frequently, tricuspid valve prolapse may occur. Stringent criteria should be used for the diagnosis of mitral valve prolapse. [nature.com]

  Often, specialized imaging tests, such as computerized tomography (CT) scanning, magnetic resonance imaging (MRI), and echocardiography, are used to detect and characterize mitral valve prolapse and aortic dilatation. [rarediseases.org]

• Blue Sclera

  sclerae, a blue tinge to the whites of the eyes micrognathia, a small chin retrognathia, receding chin Skeletal system symptoms long fingers and toes contractures of the fingers clubfoot scoliosis, curvature of the spine cervical-spine instability joint [healthline.com]

  Other distinctive features are delayed closure of the fontanels, characteristic facies, edema of the eyelids, blue sclerae, umbilical hernia, short fingers, and short stature. [nature.com]

  Patients may have blue sclera. Spondylodysplastic type (spEDS) spEDS, previously spondylocheirodysplastic type, describes an EDS variant with skeletal dysmorphology. It primarily involves the spine and the hands. [rarediseases.org]

• Musculoskeletal Pain

  Comfortable writing utensils and a low-stress mattress serve an important role in reducing musculoskeletal pain. Pain management is tailored to the individual. [rarediseases.org]

  A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. Int J Clin Pract. 2003;57:163–6. [PubMed: 12723715] Huang SJ, Amendola LM, Sternen DL. [ncbi.nlm.nih.gov]

• Myalgia

  Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Fatigue Tired Tiredness [ more ] 0012378 Hyperextensible skin Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Muscular hypotonia Low or weak muscle tone 0001252 Myalgia [rarediseases.info.nih.gov]

• Hypertelorism

  […] heart to the rest of the body) an aneurysm, a bulge in the blood vessel wall aortic dissection, sudden tearing of the layers in the aorta wall arterial tortuosity, twisting or spiraled arteries other congenital heart defects Distinct facial features hypertelorism [healthline.com]

  Loeys-Dietz syndrome Loeys-Dietz syndrome is an aortic aneurysm syndrome characterized by a triad of hypertelorism, bifid uvula/cleft palate, and arterial tortuosity with ascending aortic aneurysm/dissection. [nature.com]

• Dizziness

  EDS Hypermobile EDS People with hEDS may have: joint hypermobility loose, unstable joints that dislocate easily joint pain and clicking joints extreme tiredness (fatigue) skin that bruises easily digestive problems, such as heartburn and constipation dizziness [nhs.uk]

It’s important to meet with a doctor who is familiar with the disorder in order to determine a treatment plan. There’s no cure for the disorder, so treatment is aimed at preventing and treating symptoms. [healthline.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Treatment for Ehlers-Danlos syndromes (EDS) There's no specific treatment for EDS, but it's possible to manage many of the symptoms with support and advice. [nhs.uk]

Treatment of manifestations: Children with hypotonia and delayed motor development benefit from physiotherapy. Non-weight-bearing exercise promotes muscle strength and coordination. Anti-inflammatory drugs may alleviate joint pain. [ncbi.nlm.nih.gov]

[…] papules: small, painful, reversible herniations of underlying adipose tissue globules through the fascia into the dermis, such as on medial and lateral aspects of the feet upon standing Elastosis perforans serpiginosa: a rare skin condition of unknown etiology [ncbi.nlm.nih.gov]

Elastosis perforans serpiginosa, a skin condition of unknown etiology characterized by skin colored to erythematous keratotic papules, some enlarging outward in serpiginous or arcuate configurations, leaving slightly atrophic centers, rarely occurs. [nature.com]

Prevention of Secondary Complications For recommendations on prevention of secondary manifestations of joint laxity and dislocations, see Hypermobile EDS, Management: Prevention of Secondary Complications. [ncbi.nlm.nih.gov]

There’s no cure for the disorder, so treatment is aimed at preventing and treating symptoms. Due to the high risk of rupture, someone with this condition should be followed closely to monitor the formation of aneurysms and other complications. [healthline.com]

This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time. Page last reviewed: 04 October 2022 Next review due: 04 October 2025 [nhs.uk]

However, a series of preventive guidelines are applicable. [nature.com]

Standard Therapies Treatment The care of patients with EDS is generally focused on implementing preventative measures against serious or life-threatening complications. [rarediseases.org]