Presentation
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]
In 1908 Henri-andre Danlos gave a presentation to the same Society. [remedyspot.com]
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]
Respiratoric
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Pneumonia
However, every case displayed additional nonspecific histologic changes: pneumonia (acute or organizing, 2 cases), congestion (2 cases), fibrous pleural adhesions (2 cases), hemorrhage (1 case), and pleuritis (1 case). [academic.oup.com]
Skin
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Acneiform Eruption
Absence of Fingerprints Achenbach syndrome Acneiform Eruptions Actinic Prurigo adiaspiromycosis ainhum Albinism allergic cutaneous vasculitis Alpha-2-Deficient Collagen Disease ancylostomiasis Anetoderma angioedema Annular Erythema arterial tortuosity [rgd.mcw.edu]
Musculoskeletal
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Hip Dislocation
Source Accession 1 flexion contracture 60 33 hallmark (90%) Very frequent (99-80%) HP:0001371 2 emphysema 60 33 hallmark (90%) Very frequent (99-80%) HP:0002097 3 limitation of joint mobility 60 33 hallmark (90%) Very frequent (99-80%) HP:0001376 4 hip [malacards.org]
Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991. [orpha.net]
Synonyms CUTIS LAXA-MARFANOID SYNDROME Classification developmental, genetic, systemic and rheumatological Phenotypes Abnormal heart morphology ; Arachnodactyly ; Autosomal dominant inheritance ; Congenital diaphragmatic hernia ; Cutis laxa ; Emphysema ; Hip [mousephenotype.org]
Symptoms of Cutis laxa, neonatal, with marfanoid phenotype Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of connective tissue Congenital diaphragmatic hernia Flexion contracture Abnormality of limbs Arachnodactyly Hip dislocation [familydiagnosis.com]
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Flexion Contracture
Abnormality of the integument Cutis laxa Abnormality of the musculature Flexion contracture Abnormality of the skeletal system ... ... [familydiagnosis.com]
Affiliated tissues include heart and skin, and related phenotypes are flexion contracture and emphysema Description from OMIM: 614100 Related Diseases for Cutis Laxa, Neonatal, with Marfanoid Phenotype Symptoms & Phenotypes for Cutis Laxa, Neonatal, with [malacards.org]
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/fractures, pectus [accessmedicine.mhmedical.com]
Face, Head & Neck
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Median Cleft Lip
Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps mediastinitis Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities Metabolic Skin Diseases mixed connective tissue disease mongolian spot monilethrix Morgellons [rgd.mcw.edu]
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]
This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations. [books.google.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
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]
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]
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]
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. [ncbi.nlm.nih.gov]
Joint hyper- mobility syndromes: the pathophysiologic role of tenascin-x gene defects [review]. Arthritis Rheum 2004;50:2742–9. 25. Bravo JF. [dev.docslide.net]
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, [www5.geometry.net]