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Cutis Laxa-Marfanoid Syndrome

Neonatal Cutis Laxa with Marfanoid Phenotype


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]
Arachnodactyly
  • […] 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 dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827 5 arachnodactyly[malacards.org]
  • 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]
  • Homepage Rare diseases Search Search for a rare disease Cutis laxa-Marfanoid syndrome Disease definition A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly[orpha.net]
  • 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]
  • Name Cutis Laxa, Neonatal, With Marfanoid Phenotype Synonyms CUTIS LAXA-MARFANOID SYNDROME Classification developmental, genetic, systemic and rheumatological Phenotypes Abnormal heart morphology ; Arachnodactyly ; Autosomal dominant inheritance ; Congenital[mousephenotype.org]
Pain
  • Some types of acquired hypermobility can, however, be disadvantageous, an example being tabes dorsalis with its flaccid joints and perhaps pain as well.[books.google.com]
  • However, chronic pain commonly develops in patients with JHS, and this type of pain is less responsive to analgesics and NSAIDs.[rheumatologyadvisor.com]
  • Chronic pain and fatigue Children with joint hypermobility often experience pain in their joints and muscles. This is expected after injury to a joint but sometimes the pain occurs after even mildly strenuous exercise or without any apparent cause.[skillsforaction.com]
  • Occasionally joints are painful but this seems far less common than in the Hypermobility type.[hypermobility.org]
Marfanoid Habitus
  • Homepage Rare diseases Search Search for a rare disease Cutis laxa-Marfanoid syndrome Disease definition A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly[orpha.net]
  • Annales de Dermatologie et de Venereologie 143(4): 279-283, 2016 Marfanoid habitus with abnormal situs . American Journal of Medical Genetics. Part A 127a(3): 310-312, 2004 X linked mental retardation and marfanoid habitus .[eurekamag.com]
  • Height and joint laxity concur to the definition of a similar marfanoid-habitus Development indices were normal (testicles in scrotum, normal penis lenght).[omicsonline.org]
  • MASS phenotype Usual manifestations of this phenotype are: myopia, mitral valve prolapse, aortic dilatation, marfanoid habitus.[rheumatologyadvisor.com]
  • habitus,” motor developmental delay, muscular hypoplasia, osteopenia/osteoporosis/fractures, pectus deformities, scoliosis, protrusio acetabuli, striae Cutis laxa ELN (AD), FBLN5 (AD, AR-type 1), FBLN4 (AR-type 1), ATP6V0A2 (AR-type 2), P5CS (AR-type[mhmedical.com]
Fatigue
  • Joint hypermobility is more common in children with chronic fatigue syndrome than in healthy controls. The Journal of Pediatrics, 141(3), 421–5.[skillsforaction.com]
  • Marfan syndrome can be complicated by chronic widespread musculoskeletal pain and fatigue and patients with Marfan syndrome may also meet the diagnostic criteria for (benign) Joint Hypermobility Syndrome and/or chronic fatigue syndrome.[ped-rheum.biomedcentral.com]
  • Orthotics should be worn by patients with JHS who have pes planus to improve posture and decrease fatigue of lower extremity muscles.[rheumatologyadvisor.com]
  • Joint pain and fatigue also appear to be more common in this form of EDS. Other signs of tissue fragility such as hernias and varicose veins may also be found.[hypermobility.org]
Surgical Procedure
  • Surgical procedures have been used to improve skeletal stability and improve quality of life; for examples and reviews, see references 2-4. The EDS syndromes as a group also have a classification system.[forgottendiseases.org]
  • Despite the correctness of surgical procedure, dislocations and hernia defects occur again maybe due to the underlying connective tissue disorder since no precipitating factors which could be involved in their development were described.[omicsonline.org]
  • Hemorrhage may be difficult to control during surgical procedures.[cda-adc.ca]
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]
Mitral Valve Prolapse
  • الصفحة 66 - Freed LA, Levy D, Levine RA, et al: Prevalence and clinical outcome of mitral-valve prolapse. N Engl J Med 1999; 341(l):l-7. ‏[books.google.com]
  • Fifteen patients had mitral valve prolapse; six also had tricuspid valve prolapse. Dilatation of the aortic root or ectasia of the sinuses of Valsalva, or both, occurred in six patients.[annals.org]
  • valve prolapse, aortic root enlargement, thoracic aneurysm, aortic dissection, other aneurysms/dissections, extra-aortic vascular events, arterial tortuosity Skeletal findings: tall or short stature, pectus excavatum, pectus carinatum, arachnodactyly[unmc.edu]
  • valve prolapse, cranial abnormality, ear dysmorphism “crumpled” with folded upper helix, high-arched palate, retro/micrognathia, keratoconus, myopia, arachnodactyly, joint contractions of knees and ankles that may improve with age, flexion contractures[mhmedical.com]
Heart Disease
  • A comprehensive and exhaustive reference of fundamental and clinical aspects of heart disease in infancy and childhood.[books.google.com]
  • Diseases Cardiovascular Diseases Heart Diseases Heart Defects, Congenital Marfan Syndrome Cutis Laxa-Marfanoid Syndrome 4.[ctdbase.org]
  • NGS panel ADCY6, ADGRG6, CHRNA1, CHRND, CHRNG, CNTNAP1, DNM2, DOK7, ECEL1, ERBB3, FBN2, GLDN, GLE1, LGI4, LMNA, MUSK, MYBPC1, MYH3, MYH8, NALCN, NEK9, PIEZO2, PIP5K1C, RAPSN, TNNI2, TNNT3, TPM2, VIPAS39, VPS33B, ZBTB42, ZMPSTE24 Del Dup NGS Congenital heart[ctgt.net]
  • De novo mutations in histone-modifying genes in congenital heart disease.[ncbi.nlm.nih.gov]
  • Disease Heterotaxy Congenital Insensitivity to Pain Syndrome Congenital Lipoid Adrenal Hyperplasia Congenital Merosin Deficient Muscular Dystrophy Congenital Muscular Dystrophy, Type 1C, with Neurologic Abnormalities Congenital Myasthenic Syndrome Congenital[sequencing.com]
Cutis Laxa
  • Aliases & Classifications for Cutis Laxa, Neonatal, with Marfanoid Phenotype Summaries for Cutis Laxa, Neonatal, with Marfanoid Phenotype MalaCards based summary : Cutis Laxa, Neonatal, with Marfanoid Phenotype, is also known as cutis laxa-marfanoid syndrome[malacards.org]
  • Diseases Skin and Connective Tissue Diseases Connective Tissue Diseases Marfan Syndrome Cutis Laxa-Marfanoid Syndrome 11. Diseases Skin and Connective Tissue Diseases Skin Diseases Skin Diseases, Genetic Cutis Laxa Cutis Laxa-Marfanoid Syndrome[ctdbase.org]
  • More Symptoms of Cutis laxa, neonatal, with marfanoid phenotype » • • • Back to: « Cutis laxa Genetics of Cutis laxa, neonatal, with marfanoid phenotype Diagnosis See also related information on diagnosis: Diagnosis of Marfan Syndrome Treatments See also[familydiagnosis.com]
  • Affiliating Genes 1 Cutis Laxa, Neonatal, with Marfanoid Phenotype 30 MalaCards organs/tissues related to Cutis Laxa, Neonatal, with Marfanoid Phenotype: 42 Heart, Skin, Bone Search GEO for disease gene expression data for Cutis Laxa, Neonatal, with Marfanoid[malacards.org]
  • Name Cutis Laxa, Neonatal, With Marfanoid Phenotype Synonyms CUTIS LAXA-MARFANOID SYNDROME Classification developmental, genetic, systemic and rheumatological Phenotypes Abnormal heart morphology ; Arachnodactyly ; Autosomal dominant inheritance ; Congenital[mousephenotype.org]
Osteoporosis
  • Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice. ‏[books.google.com]
  • […] 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[mhmedical.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]
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]
  • dislocation Skin Nails Hair Skin: cutis laxa Chest Diaphragm: diaphragmatic hernia Clinical features from OMIM: 614100 Human phenotypes related to Cutis Laxa, Neonatal, with Marfanoid Phenotype: 59 32 (show all 11) # Description HPO Frequency Orphanet[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]
  • 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]
  • 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]
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,[malacards.org]
  • Human phenotypes related to Cutis Laxa, Neonatal, with Marfanoid Phenotype: 60 33 (show all 11) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 flexion contracture 60 33 hallmark (90%) Very frequent (99-80%) HP:0001371 2 emphysema[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[mhmedical.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]
  • This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.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]
  • Leon Chaitow ND DO is an internationally known and respected osteopathic and naturopathic practitioner and teacher of soft tissue manipulation methods of treatment.[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]
  • Treatment & Prognosis Plastic surgery can often improve the appearance of the skin, although the improvement may be only temporary. Severe impairments of the heart, lungs, arteries, or intestines can be fatal. 7.[slideshare.net]

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]
  • […] circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.[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,[www5.geometry.net]

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