Presentation
In 1908 Henri-andre Danlos gave a presentation to the same Society. [remedyspot.com]
Presents the contributions of 70% new authors, from all over the world, in a consistent format to make referencing global perspectives quick and easy. [books.google.com]
ORPHA:171719 Synonym(s): - Prevalence: Inheritance: - Age of onset: Infancy, Neonatal ICD-10: - OMIM: 614100 UMLS: C0432335 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]
The determination of which form of cutis laxa is present is aided by information about the associated symptoms and by family histories. Treatment There is no effective cure for any of these disorders. [medical-dictionary.thefreedictionary.com]
Entire Body System
- Arachnodactyly
Description from OMIM: 614100 Related Diseases for Cutis Laxa, Neonatal, with Marfanoid Phenotype Symptoms & Phenotypes for Cutis Laxa, Neonatal, with Marfanoid Phenotype Symptoms via clinical synopsis from OMIM: 57 Respiratory Lung: emphysema Skeletal Limbs: arachnodactyly [malacards.org]
Arachnodactyly This peculiar appearance of the digits is reminiscent of the legs of a spider, which is the reason for the designation (Greek arachno = spider). [rrnursingschool.biz]
Diseases related with Abnormality of the skeletal system and Arachnodactyly In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Arachnodactyly that can help you solving undiagnosed [mendelian.co]
- Rigor
Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]
Musculoskeletal
- Osteoporosis
[…] improve with age, flexion contractures of small digital joints, hip contractures, thumb adduction, clubfoot, paradoxical patellar laxity, pyeloureteral junction stenosis, “marfanoid habitus,” motor developmental delay, muscular hypoplasia, osteopenia/osteoporosis [accessmedicine.mhmedical.com]
Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice. [books.google.com]
Bamatter et al. (1950) created the term ‘gerodermia osteodysplastica’ (GO; OMIM 231070) to describe a prematurely aged appearance associated with skeletal findings of osteoporosis, vertebral deformity &fractures. [slideshare.net]
[…] rhythm disorder / arrhythmia - Colonic / intestinal / bowel diverticulosis / diverticulitis - Early death / lethality - Heart / cardiac failure - Hypothyroidy - Long hand / arachnodactyly - Motor deficit / trouble - Mutiple fractures / bone fragility - Osteoporosis [csbg.cnb.csic.es]
Psychiatrical
- Anxiety Disorder
Finally, a link between psychological distress and JHS is increasingly recognized, mostly with anxiety disorders but also with depression and other conditions like obsessive-compulsive disorder. [rheumatologyadvisor.com]
Workup
Case 4 Clinical Data A 50-year-old man was diagnosed with Marfan syndrome in October 2008 during a workup for lung transplantation. [academic.oup.com]
Treatment
[…] the following treatment articles: Treatments for Marfan Syndrome Causes See also causal information: Causes of Cutis laxa Causes of Marfan Syndrome Similar Topic Articles Cutis laxa Marfan syndrome Names and Terminology References Source: GTR (NCBI/NIH [familydiagnosis.com]
Emphasizes the treatment of corrected congenital heart disease for coverage of the clinical management of cardiac problems in the adolescent and young adult. [books.google.com]
Symptoms and treatment depend on the disorder. Treatment of heart complications may involve restriction of certain physical activities, drug treatment or surgical repair. [luriechildrens.org]
In summary, we recommend systematic and sequential treatment based on plastic surgery for the treatment of CCL. [frontiersin.org]
Prognosis
Prognosis The prognosis of EDS depends on the specific type. Life expectancy can be shortened with the Vascular Type of EDS due to the possibility of organ and vessel rupture. Life expectancy in all other types is normal. [ehlersdanlos.ca]
Prognosis The prognosis for cutis laxa varies with the form of the disorder. The effects may be relatively mild with individuals living a fairly normal, full life, or the disease may be fatal. [medical-dictionary.thefreedictionary.com]
Dermatology Articles (Diagnosis, Dermatologic Surgery Dermatology articles covering symptoms, diagnosis, staging, treatment, prognosis, and follow-up. Peer reviewed and up-to-date recommendations written by leading experts. [fqdxvd.co]
Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]
Etiology
Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]
Etiology, diagnosis, and treatment implications. Sports Health 4(5): 394-403. Full text on PubMed. 5. Castori M et al. (2010) Ehlers-Danlos syndrome hypermobility type and the excess of affected females: possible mechanisms and perspectives. [forgottendiseases.org]
The constellation of abnormalities suggests a genetic syndrome of connective tissue etiology. Further genetic studies, and gene mapping, are underway. [cambridge.org]
Ehlers-danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications. Sports Health, 4(5), 394–403. doi:10.1177/1941738112452385 Smits-Engelsman, B., Klerks, M., & Kirby, A. (2011). [skillsforaction.com]
Etiology and pathogenesis of heritable connective tissue diseases. J Pediatr Orthop 1993: 13(3):392-403. 23. Sacks H, Zelig D, Schabes G. [cda-adc.ca]
Epidemiology
Myelofibrosis with myeloid metaplasia Schwartz-Jampel syndrome Synonym(s): (no synonyms) Classification (Orphanet): - Rare genetic disease - Rare systemic or rheumatologic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]
A brief history of the disease is presented along with the epidemiology and characteristics of the 8 main phenotypes of the syndrome. [cda-adc.ca]
You might also be interested in Dermatology Occurrence/Epidemiology This section has been translated automatically. Overall, the hereditary Cutis laxa is very rare. Autosomal-recessive inherited forms are more common than autosomal dominant forms. [altmeyers.org]
Epidemiology of general joint hypermobility and basis for the proposed criteria for benign joint hypermobility syndrome: review of the literature. J Rheumatol.2007;34:804–809. [skillsforaction.com]
Pathophysiology
& Vitamin K Antagonists: Anticoagulation Affects on the Clotting Cascade Wilson’s Disease Section 9 - Genodermatoses and Syndromes Addison’s Disease Amyloid Basal Cell Nevus Syndrome Carney Complex Cushing's Syndrome and Disease Cushing's Syndrome: Pathophysiology [euro-libris.ro]
Pseudoxanthoma elasticum: A clinical, pathophysiological and genetic update including 11 novelABCC6 mutations. J Med Genet 2005;42:881-92. 2. Neldner KH. Pseudoxanthoma elasticum. Clin Dermatol 1988;6:1-159. 3. [idoj.in]
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005; 42:881–892. CrossRef PubMed CAS Google Scholar Le Boulanger G, Labreze C, Croue A et al. G. [link.springer.com]
Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119 : 880–890. 17. Janssens K, Vanhoenacker F, Bonduelle M, et al. [nature.com]
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity. Eur J Hum Genet. 2004;12:173–80. [ncbi.nlm.nih.gov]
Prevention
Prevention The inherited forms of cutis laxa are genetically determined and are not currently preventable. Genetic counseling can be helpful for anyone with a family history of cutis laxa. [medical-dictionary.thefreedictionary.com]
Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]
Early diagnosis is important if the ocular and cardiovascular complications are to be prevented. [idoj.in]
AllRefer Health - Ehlers-Danlos Syndrome ehlersdanlos syndrome information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, tests, support groups, http://health.allrefer.com/health/ehlers-danlos-syndrome-info.html [www5.geometry.net]