Affiliated tissues include skin and bone, and related phenotypes are pectus excavatum and inguinal hernia UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, cardiac valvular type: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders [malacards.org]

Symptoms - Ehlers-Danlos syndrome- cardiac valvular form * Dislocations * Hypermobile small joints * Muscle tears * Tendon tears * Inguinal hernia * Scarred skin * Easy bruising * Thin skin * Hyperextensible skin * Myopia * Astigmatism * Systolic murmur [checkorphan.org]

Surface : Inguinal hernias (10-20%), umbilical hernias Epidermal: Hyperelastic skin, white-surfaced and wrinked “cigarette-paper” scars, purplish keloids or violaceous/brown macules, enhanced skin fragility with gaping wounds after trauma, molluscoid [kinderggnome.biz]

hernia 0000023 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Mitral regurgitation 0001653 Mitral valve prolapse 0001634 Pectus excavatum Funnel chest 0000767 Pes planus Flat feet Flat foot [ more ] 0001763 [rarediseases.info.nih.gov]

hernia) Protrusion of intestine through a weak point in the muscles surrounding the navel (umbilical hernia) Progeroid type: Wasting of scar tissue on skin Reduced bone mass An aged appearance due to: Formation of wrinkles on facial skin Sparse hair [dovemed.com]

A burning sensation in the mouth, dizziness, palpitations, pre-syncope (i.e. dizzy or almost fainting) intestinal pain in the stomach, bladder pain Chronic fatigue, • feeling cold (common), feeling hot, unexplained sweats, weight gain • Itchiness that [invisibleillnessforum.com]

Possible diagnosis of EDS type VIII: Clinical features of EDS VIII such as hyperextensible joints, atrophic scarring, and easy bruising can often overlap with other forms of EDS. [uwcpdx.org]

Hyperextensibility of the skin, easy bruising, tissue fragility, hypotonia, kyphoscoliosis have also been reported. Structural cardiovascular alterations have been described in cases of classical and hypermobile EDS [ 4 ]. [ijponline.biomedcentral.com]

Easy bruising is common. Joint hypermobility is the primary clinical manifestation. [nature.com]

Symptoms - Ehlers-Danlos syndrome- cardiac valvular form * Dislocations * Hypermobile small joints * Muscle tears * Tendon tears * Inguinal hernia * Scarred skin * Easy bruising * Thin skin * Hyperextensible skin * Myopia * Astigmatism * Systolic murmur [checkorphan.org]

Other symptoms may include abnormally stretchy (hyperextensible) skin, easy bruising, fragile skin, abnormal wound healing resulting in “cigarette paper” (atrophic) scars, low muscle tone (hypotonia), lower than normal bone mineral density (radiologically [diseaseinfosearch.org]

EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation. [uniprot.org]

Severe aortic regurgitation in Ehlers-Danlos syndrome type IV Statistics from Altmetric.com Images in cardiology A 47 year old white man was hospitalised for cardiac examination. [heart.bmj.com]

In cases of acute severe mitral regurgitation, emergent surgical intervention is indicated. [karger.com]

Aortic regurgitation, mitral valve prolapse and mitral regurgitation occur with increased frequency in patients with Marfan syndrome, Loeys-Dietz syndrome and other connective tissue disorders, including EDS. [ijponline.biomedcentral.com]

The patient’s clinical features (panels D and E) together with his family history (his father died from a distended abdomen after cholecystectomy, a spontaneous intestinal perforation caused his brother’s death, and his sister died suddenly of a ruptured [heart.bmj.com]

In addition, skin of the hands and feet may appear prematurely aged (acrogeria). vEDS is particularly associated with arterial dissection and rupture, intestinal perforation, and uterine rupture. [rarediseases.org]

EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation. [uniprot.org]

The consistent association of abnormal production of type III collagen and mitral valve prolapse in this family suggests that this abnormality of collagen may give rise to mitral valve prolapse. Footnotes [circ.ahajournals.org]

References Boudoulas H, Wooley CF (eds): Mitral Valve Prolapse and the Mitral Valve Prolapse Syndrome. Mount Kisco, Futura, 1998. [karger.com]

mitral valve prolapse, aortic aneurysm, and dissection), the musculoskeletal system (e.g., tall stature with disproportionately long extremities, joint hypermobility), and the eyes (e.g., subluxation of the lens of the eye ). [amboss.com]

Her clinical work and research interests lie in the area of adults with congenital heart defects, with special attention to the aortic valve defects and aortic pathology and pregnancy in people with heart disease. [books.google.de]

disease (such as mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse) * Chronic fatigue* [peakshow.wordpress.com]

Lang RM, Tsang W, Weinert L, et al: Valvular heart disease. The value of 3-dimensional echocardiography. J Am Coll Cardiol 2011;58:1933-1944. [karger.com]

Disease Ana Morales, Dawn C. [nature.com]

[…] caused by mutations in the SLC39A13 gene, encoding the membrane-bound zinc transporter SLC39A13. 37 The RIN2-syndrome is characterized by severe progressive scoliosis, progressive facial coarsening, gingival hypertrophy, sparse hair, and skin and joint hyperlaxity [nature.com]

Symptoms - Ehlers-Danlos syndrome- cardiac valvular form * Dislocations * Hypermobile small joints * Muscle tears * Tendon tears * Inguinal hernia * Scarred skin * Easy bruising * Thin skin * Hyperextensible skin * Myopia * Astigmatism * Systolic murmur [checkorphan.org]

skin Dominant C1S, C1R Peridontal, Type VIII Musculocontractural Type Craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, hypotonia, thin skin, easy bruising, atrophic scarring, joint hypermobility [uwcpdx.org]

skin transparent skin thin nose protruding eyes thin lips sunken cheeks small chin collapsed lung heart valve problems Doctors may use a series of tests to diagnose EDS (except for hEDS), or rule out other similar conditions. [healthline.com]

The condition is characterized by thin skin, fragile arteries, and organs prone to rupture, and reduced subcutaneous fat Kyphoscoliotic type : It is caused by mutation(s) in the PLOD1 gene, and the condition is characterized by low muscle tone at birth [dovemed.com]

skin 0000963 Showing of 15 Last updated: 7/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

cutis laxa, or OHS, is caused by mutations in ATP7A and was discussed earlier. [nature.com]

Cutis laxa. Superficially, the stretchy skin found in most forms of EDS may be confused with cutis laxa type 1 and type 2, as stretchy skin is also a feature of these conditions. [forgottendiseases.org]

laxa Bruising Autosomal recessive Procollagen N-peptidase One that is not incorporated into this schema is known as the occipital horn syndrome. [rarediseasesindia.org]

Cutis laxa. Pseudoxanthoma elasticum. Other causes of joint hypermobility - eg, benign joint hypermobility syndrome (BJHS), Marfan's syndrome, osteogenesis imperfecta [ 16 ]. Fibromyalgia. Chronic fatigue syndrome. [patient.info]

[…] and excessive sweating* Delayed gastric emptying* Bloating after meals* Nausea* Vomiting* Abdominal pain* Diarrhea* Constipation* Bladder dysfunction* Polyuria ( excessive urination)* Blurred vision Tunnel vision Fatigue (which can be disabling)* Sleep [peakshow.wordpress.com]

[…] fainting (syncope), extreme fatigue for no reason, low blood pressure, periods of poor word recall/focus called brain fog (often misdiagnosed as ADHD), sensitivity to heat or cold, lower extremity mottling/turning purple or blue on standing, abnormal sweating [kinderggnome.biz]

She also finds that CBT (cognitive behavioural therapy) and hypnosis, which she practises (and teaches), help This can lead to rapid heartbeat, dizziness, excessive sweating and an inability to cope with heat. [dailymail.co.uk]

A burning sensation in the mouth, dizziness, palpitations, pre-syncope (i.e. dizzy or almost fainting) intestinal pain in the stomach, bladder pain Chronic fatigue, • feeling cold (common), feeling hot, unexplained sweats, weight gain • Itchiness that [invisibleillnessforum.com]

(tearing of the skin), stretchy skin, easy bruising, joint hypermobility Recessive ADAMTS2 Dermatosparaxis, Type VIIC Cardiac-Valvular Form Joint hypermobility, skin hyperextensibility, cardiac valvular defects Recessive COL1A2 Comprehensive EDS Panel [uwcpdx.org]

Major criteria Extreme skin fragility with congenital or postnatal skin tears. Characteristic craniofacial features. Redundant, almost lax skin, with excessive skin folds at wrists and ankles. Increased palmar wrinkling. [patient.info]