Presentation
ORPHA:2069 Synonym(s): - Prevalence: Inheritance: - Age of onset: Adult, Adolescent ICD-10: - OMIM: 137270 UMLS: C1850899 MeSH: C535651 GARD: 2438 MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]
Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]
and adjuconi ,c:roiind, all laid cut in Eng - l-sii st-.Oe, ith estensive vari'-tv ol fruit, 10 minutes' walk n-oin... ...of those Ideas which are op- posed to English policy and the principles of Eng - land's greatest statesmen ofthe past and the present [newspaperslibrary.org]
Past Chair of the National Conference and Exhibition Planning Group (Committee on Scientific Meetings) of the American Academy of Pediatrics and member of the Pediatric Academic Societies’ (SPR/PAS) Planning Committee (1998 to Present). [books.google.de]
Case presentation Here we describe the case of an 81-year-old Caucasian woman presenting a carcinoma perforating her anterior gastric wall and infiltrating all layers of her abdominal wall. [jmedicalcasereports.biomedcentral.com]
Entire Body System
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Physician
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
Pfenninger and Fowler provide the latest and most comprehensive information on medical procedures that allow primary care physicians to more effectively treat their patients. [books.google.com]
While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. [howlingpixel.com]
PEG tube placement is a very common procedure, but physicians should be mindful of this uncommon complication. Disclosures Author contributions: BB Patel and C. Andrade wrote and edited the manuscript. V. Doraiswamy and C. [acgcasereports.gi.org]
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Atrial Septal Defect
[…] lymphoblastic leukemia Secundum atrial septal defect Muscle weakness Epiphyseal stippling Abnormality of the radius Hypoplasia of the radius Short metacarpal Abnormal form of the vertebral bodies Depressed nasal ridge Open mouth Abnormality of the nail [mendelian.co]
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Developmental Disabilities
Since 1998, he has been involved with the Southeast Pediatric Environmental Health Specialty Unit at Emory University, where he has integrated his understanding of developmental disabilities into the world of environmental health. [books.google.de]
Skin
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Ulcer
Orpha Number: 2069 Disease definition A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. [rarediseases.info.nih.gov]
Homepage Rare diseases Search Search for a rare disease Gastrocutaneous syndrome Disease definition A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer [orpha.net]
From Wikidata Jump to navigation Jump to search human disease GASTROCUTANEOUS SYNDROME Peptic Ulcer/Hiatal Hernia, Multiple Lentigines/Cafe-Au-Lait Spots, Hypertelorism, Myopia edit English Gastrocutaneous syndrome human disease GASTROCUTANEOUS SYNDROME [wikidata.org]
Overview A arare inherited disorder characterized by peptic ulcers, hiatus hernia, eye abnormalities and skin pigmentation. [checkorphan.org]
MalaCards based summary : Gastrocutaneous Syndrome, is also known as peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia. [malacards.org]
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Hyperpigmentation
Homepage Rare diseases Search Search for a rare disease Gastrocutaneous syndrome Disease definition A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer [orpha.net]
NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2069Disease definitionGastrocutaneous syndrome is a rare, syndromic, hyperpigmentation of the skin [malacards.org]
Orpha Number: 2069 Disease definition A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. [rarediseases.info.nih.gov]
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Cafe-Au-Lait Spots
Title Other Names: Peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia Categories: The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. [rarediseases.info.nih.gov]
From Wikidata Jump to navigation Jump to search human disease GASTROCUTANEOUS SYNDROME Peptic Ulcer/Hiatal Hernia, Multiple Lentigines/Cafe-Au-Lait Spots, Hypertelorism, Myopia edit English Gastrocutaneous syndrome human disease GASTROCUTANEOUS SYNDROME [wikidata.org]
MalaCards based summary : Gastrocutaneous Syndrome, is also known as peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia. [malacards.org]
Biological context of Cafe-au-Lait Spots Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome [15]. [wikigenes.org]
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Papule
[…] gathering pertinent information regarding the presenting skin lesion(s), including the location (such as arms, head, legs), symptoms (pruritus, pain), duration (acute or chronic), arrangement (solitary, generalized, annular, linear), morphology (macules, papules [howlingpixel.com]
It shares clinical signs with other disorders, such as Haber syndrome (facial telangiectasias and follicular papules), Kitamura's acropigmentatio reticularis (hyperpigmentation of the extensor surfaces of the hands and feet and milia-sized keratotic papules [bioscience.org]
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Blister
Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology (chronic blistering conditions), etiology (skin conditions resulting from physical factors), and so on. [howlingpixel.com]
Eyes
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Strabismus
[…] more ] 0005280 Type II diabetes mellitus Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ] 0005978 5%-29% of people have these symptoms Coronary artery atherosclerosis Plaque build-up in arteries supplying blood to heart 0001677 Strabismus [rarediseases.info.nih.gov]
He had divergent strabismus and was myopic (Figs. 9a,b). Dermatoglyphics are in Table I. [docslide.com.br]
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Lacrimation
Prominent nasolabial fold Taurodontia Widely spaced teeth Micromelia Brittle hair Short chin Supernumerary nipple Non-midline cleft lip Generalized hyperpigmentation Submucous cleft hard palate Hypoplastic nipples Soft skin Dysphonia Rhinitis Absent lacrimal [mendelian.co]
Growth Hormone Insensitivity, Partial; GHIP OMIM:245590 Growth Hormone Insensitivity with Immunodeficiency OMIM:616489 Growth Restriction, Severe, with Distinctive Facies; GRDF OMIM:601351 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal [informatics.jax.org]
The conjunctival pigmentation typically affects the lacrimal caruncle and the conjunctival semilunar fold and may involve the sclera. Commonly, one or more eyelid masses (myxomas) are present (Figure 2c). [bioscience.org]
Face, Head & Neck
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Hypertelorism
Orpha Number: 2069 Disease definition A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. [rarediseases.info.nih.gov]
Homepage Rare diseases Search Search for a rare disease Gastrocutaneous syndrome Disease definition A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism [orpha.net]
MalaCards based summary : Gastrocutaneous Syndrome, is also known as peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia. [malacards.org]
From Wikidata Jump to navigation Jump to search human disease GASTROCUTANEOUS SYNDROME Peptic Ulcer/Hiatal Hernia, Multiple Lentigines/Cafe-Au-Lait Spots, Hypertelorism, Myopia edit English Gastrocutaneous syndrome human disease GASTROCUTANEOUS SYNDROME [wikidata.org]
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Depressed Nasal Bridge
nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Type II diabetes mellitus Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [rarediseases.info.nih.gov]
Diseases related with Depressed nasal bridge and Abnormality of skin pigmentation In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Abnormality of skin pigmentation that can help you solving [mendelian.co]
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Low Nasal Root
nasal root [ more ] 0005280 Type II diabetes mellitus Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ] 0005978 5%-29% of people have these symptoms Coronary artery atherosclerosis Plaque build-up in arteries supplying blood to [rarediseases.info.nih.gov]
Onset
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Onset in Adolescence
ORPHA:2069 Synonym(s): - Prevalence: Inheritance: - Age of onset: Adult, Adolescent ICD-10: - OMIM: 137270 UMLS: C1850899 MeSH: C535651 GARD: 2438 MedDRA: - The documents contained in this web site are presented for information purposes only. [orpha.net]
Treatment
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]
Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances. [books.google.com]
Treatment - Gastrocutaneous syndrome Not supplied. Resources - Gastrocutaneous syndrome Not supplied. [checkorphan.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]
Prognosis
Prognosis - Gastrocutaneous syndrome Not supplied. Treatment - Gastrocutaneous syndrome Not supplied. Resources - Gastrocutaneous syndrome Not supplied. [checkorphan.org]
In some patients diagnosis can be difficult due to various clinical presentations [ 5 – 11 ], some of which are correlated to poor prognosis. [jmedicalcasereports.biomedcentral.com]
Prognosis ECF is a common condition in most general surgical wards. [emedicine.medscape.com]
Etiology
Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
The discussion considered the main pathogenesis, etiology, diagnostics and endoscopic treatment using the implantation of covered esophageal stents. [degruyter.com]
The etiology of gastric fistulae is not well understood. [archintsurg.org]
The etiology of ECFs can thus be characterized as postoperative, traumatic, or spontaneous. [emedicine.medscape.com]
Epidemiology
Peeters A, Barendregt JJ, Willekens F, Mackenbach JP, Al Mamun A, Bonneux L; NEDCOM, the Netherlands Epidemiology and Demography Compression of Morbidity Research Group. [gastroenterologyandhepatology.net]
The genetic component of pigmented skin lesions independent of associated conditions has been confirmed in the general population in large epidemiologic studies (114, 115), but surprisingly few studies have investigated the skin or other lesions excised [bioscience.org]
Pathophysiology
Final comments Microbial mechanisms appear, therefore, to be involved in the pathophysiology of irritable bowel syndrome. [tidsskriftet.no]
Although our understanding is far from complete, studies of adhesion formation thus far have determined what is believed to be the central pathophysiological mechanism leading to ad-hesion development., This is discussed below. [gastrointestinalatlas.com]
Understanding the pathophysiology of, as well as the risk factors for, ECFs should help to reduce their occurrence. [emedicine.medscape.com]
Prevention
These are complemented by papers discussing how these new findings about cell/tissue injury and cytoprotection/organoprotection can be applied to the prevention and treatment of tissue damage in the gastrointestinal tract. [books.google.com]
Prevention - Gastrocutaneous syndrome Not supplied. Diagnosis - Gastrocutaneous syndrome Not supplied. Prognosis - Gastrocutaneous syndrome Not supplied. Treatment - Gastrocutaneous syndrome Not supplied. [checkorphan.org]
This volume offers authoritative, evidence-based recommendations for preventing and managing complications in all current general surgery procedures. [books.google.de]
The anastomosis is observed with reduced diameter, preventing the solid food from passing to the jejunum. There are some remnant threads. [gastrointestinalatlas.com]