Infobox Disease Name PAGENAME Image Caption DiseasesDB 307 ICD10 ICD10 D 65 d 65 ICD9 ICD9 286.3 ICDO OMIM 202400 MedlinePlus 001313 eMedicineSubj ped eMedicineTopic 3042 MeshID D000347 Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally due to a lack of or a malfunction involving fibrinogen , a protein necessary for coagulation . ref name pmid17295221 cite journal author Neerman Arbez M, de Moerloose P title Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia an update and report of 10 novel mutations journal Hum. Mutat. volume 28 issue 6 pages 540 53 year 2007 pmid 17295221 doi 10.1002 humu.20483 ref Fibrinogen is also known as Factor I. Its lack is inherited in an autosomic recessive way. It can express itself with excessive bleeding since birth bleeding from umbilical cord, easy bruising, bleeding after circumcision ref National Hemophilia foundation http www.hemophilia.org NHFWeb MainPgs MainNHF.aspx?menuid 184&contentid 44&rptname bleeding . ref Diagnostic tests When a problem of fibrinogen is suspected, the following tests can be ordered PT PTT Fibrinogen level in blood total and clottable Reptilase time Thrombin time ref Brick Wendy,MD, Burgess Rusell,MD, Dysfibrogenemia http emedicine.medscape.com article 199723 diagnosis ref Bleeding worksheet References reflist Category Congenital disorders Category Coagulopathies med stub Hematology es Afibrinogenemia ... more details
Refimprove date April 2008 Infobox Disease Name Congenital epulis Image Caption DiseasesDB 32726 ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID The congenital epulis is a proliferation of cells on the maxilla upper jaw at birth. This is more commonly found on female babies. The cause of the disease is unknown. See also Epulis External links http www.cadenagramonte.cu english health congenital epulis.asp Congenital Epulis, from Fright to Cure Dead link date November 2009 References Kahn, Michael A. Basic Oral and Maxillofacial Pathology. Volume 1. 2001. Oral pathology DEFAULTSORT Congenital Epulis Category Jaw disorders disease stub ... more details
Infobox Disease Name Congenital myopathy Image Caption DiseasesDB ICD10 ICD10 G 71 2 g 70 ICD9 ICD9 359.0 ICDO OMIM MedlinePlus eMedicineSubj article eMedicineTopic 1175852 MeshID D020914 Congenital myopathy is a term for any muscle disorder present at birth. ref The first version of this article incorporates material from the National Institute of Neurological Disorders and Stroke document Congenital Myopathy Information Page at http www.ninds.nih.gov disorders myopathy congenital myopathy congenital.htm As a work of an agency of the U.S. Government without any other copyright notice it should be available as a public domain resource . ref By this definition the congenital myopathies could include hundreds of distinct neuromuscular syndromes and disorders. Congenital myopathies do not show evidence for either a progressive dystrophy dystrophic process i.e., muscle death or inflammation , but instead characteristic microscopic changes are seen in association with reduced contractile ability of the muscles. In general, congenital myopathies cause loss of muscle tone and muscle weakness in infancy and delayed motor milestones, such as walking, later in childhood. Types The conditions included under the term congenital myopathy can vary. One source includes nemaline myopathy , myotubular myopathy , central core myopathy , congenital fiber type disproportion , and multicore myopathy . ref http www.merck.com mmpe sec19 ch295 ch295c.html ref The term can also be used more broadly, to describe conditions present from birth. External links http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part cftd GeneReviews NCBI NIH UW entry on Congenital Fiber Type Disproportion References reflist Diseases of myoneural junction and muscle DEFAULTSORT Congenital Myopathy Category Genetic disorders by system Category Myoneural junction and neuromuscular diseases Genetic disorder stub zh ... more details
Infobox Disease Name Congenital Anomaly Image Caption DiseasesDB ICD10 http www.who.int classifications ... steer with five legs. A congenital anomaly congenital abnormality , congenital malformation , birth .... ref name urlPenn State Plastic Surgery Hand & Wrist Surgery Congenital Abnormalities cite web ... Surgery Hand & Wrist Surgery Congenital Abnormalities work accessdate ref It is a type of congenital disorder which is primarily structural in nature. ref MeshName Congenital Disorders ref Types A limb ... , brachydactyly , dwarfism achondroplasia , congenital aplasia or hypoplasia , amniotic band syndrome , and cleidocranial dysostosis . Congenital anomalies of the heart include patent ductus ... Taussig has been a major force in research on congenital anomalies of the heart. http www.answers.com topic helen taussig Congenital anomalies of the nervous system include neural tube defects such as spina bifida , meningocele , meningomyelocele , encephalocele and anencephaly . Other congenital anomalies ... , and agenesis of the corpus callosum . Congenital anomalies of the gastrointestinal system include .... ref Congenital anomalies involving the brain are the largest group at 10 per 1000 live births ... other physical anomalies have a combined incidence of 6 per 1000 live births. Congenital anomalies of the heart have the highest risk of death in infancy, accounting for 28 of infant deaths due to congenital ... , and brain anomalies about 12 . Causes The cause of 40 60 of congenital anomalies in humans is unknown ... and Cotran s Pathologic Basis of Disease, 7th edition , p.473. ref Genetic causes of congenital anomalies ... of the germ cell s that gave rise to the fetus. Environmental causes of congenital anomalies .... The type of congenital anomaly is also related to the time of exposure to a teratogen. For instance ... deaf . A common cause of congenital deafness of children in particular is a measles infection in the mother. References reflist Phakomatoses and other congenital malformations not elsewhere classified ... more details
Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD10 Q 89 2 q 80 ICD9 ICD9 759.2 ICDO OMIM 275200 MedlinePlus eMedicineSubj eMedicineTopic MeshID Congenital hypopituitarism is hypopituitarism which one is born with. ref Webster s New Universal Dictionary, 1999 ed. ref One sign may be micropenis . ref name pmid6421404 cite journal author Salisbury DM, Leonard JV, Dezateux CA, Savage MO title Micropenis an important early sign of congenital hypopituitarism journal Br Med J Clin Res Ed volume 288 issue 6417 pages 621 2 year 1984 month February pmid 6421404 pmc 1444359 doi 10.1136 bmj.288.6417.621 url ref References reflist Congenital endocrine disorders Category Congenital disorders of endocrine system Category Article Feedback 5 disease stub ... more details
Congenital amputation is a congenital disorder that can be caused by amniotic band syndrome fibrous bands of the amnion that constrict foetus foetal limbs to such an extent that they fall off due to missing blood supply. The child is born without one or more limbs or without parts of limbs Amelia birth defect amelia . Causes Congenital amputations can result from a number of causes. One common cause is amniotic band syndrome , which occurs when the inner fetal membrane amnion ruptures without injury to the outer membrane chorion . Fibrous bands from the ruptured amnion float in the amniotic fluid and can get entangled with the fetus, thus reducing blood supply to the developing limbs to such an extent that the limbs can become strangulated, the tissues die and are absorbed into the amniotic fluid. Amnion ruptures can be caused by teratogenesis teratogenic drugs e.g. thalidomide , which causes phocomelia , or environmental chemicals ionizing radiation atomic weapons , radioiodine , radiation therapy infections metabolic imbalance Physical trauma trauma Treatment In rare cases, if diagnosed in utero, fetal surgery may be considered to save a limb which is in danger of amputation . See also The term congenital amputation is sometimes used loosely to mean congenital absence . Literature Gabos PG. Department of Orthopedic Surgery, Alfred I. duPont Hospital for Children, Wilmington, DE 19899, USA Modified technique for the surgical treatment of congenital constriction bands of the arms and legs of infants and children Orthopedics. 2006 May 29 5 401 4 Walter JH Jr, Goss LR, Lazzara ... Surgery, Loyola University School of Medicine, Maywood, Illinois 60153, USA Congenital constriction ... search for congenital amputation or amniotic band or congenital constriction bands or other synonyms ... born with congenital amputation of the forearms and lower legs. Congenital malformations and deformations of musculoskeletal system Category Congenital disorders of musculoskeletal system Medicine ... more details
Congenital lymphedema is a blockage of fluid in the developing fetal lymphatic system . It is diagnosed by a nuchal scan . Presence of this condition is also associated with congenital heart defect . ref http journals.lww.com obgynsurvey Abstract 2006 01000 Relationship Between Nuchal Translucency Thickness.7.aspx Relationship Between Nuchal Translucency Thickness and Prevalence of Major Cardiac Defects in Fetuses With Normal Karyotype , by Atzei, A Gajewska, K Huggon, I C. Allan, L Nicolaides, K H. Obstetrical and Gynecological Survey. January 2006. Volume 61, Issue 1, pages 8 10. ref See also Amniotic band syndrome HNRPH1 Norman Roberts syndrome Reelin References references Category Lymphatic system Category Diseases of veins, lymphatic vessels and lymph nodes Congenital malformations and deformations of integument Lymphatic disease Hemodynamics ... more details
Infobox disease Name Congenital hypothyroidism Image Jaundice in newborn.jpg Caption 6 week old female ... eMedicineTopic MeshID D003409 Congenital hypothyroidism CH is a condition of thyroid hormone ..., severe congenital hypothyroidism can lead to growth failure and permanent mental retardation . Treatment ... and treat congenital hypothyroidism in the first weeks of life. Etiology Around the world, the most common cause of congenital hypothyroidism is iodine deficiency, but in most of the developed ... who had given birth to infants with congenital hypothyroidism. ref name pmid17307219 cite journal ... who gave birth to neonates with congenital hypothyroidism journal Chemosphere journal Chemosphere ... untreated congenital hypothyroidism, usually due to iodine deficiency from birth because of low iodine .... Genetic Congenital hypothyroidism can also occur due to genetic defects of thyroxine or triiodothyronine ... deficiency. In a small proportion of cases of congenital hypothyroidism, the defect is due to a deficiency of thyroid stimulating hormone , either isolated or as part of congenital hypopituitarism . Genetic types of nongoitrous congenital hypothyroidism include class wikitable OMIM Name Gene OMIM2 275200 congenital hypothyroidism, nongoitrous 1 CHNG1 TSHR OMIM2 218700 CHNG2 PAX8 OMIM2 609893 CHNG3 ? at 15q25.3 q26.1 OMIM2 275100 CHNG4 TSHB OMIM2 225250 CHNG5 NKX2 5 Nongoitrous congenital hypothyroidism ... for nongoitrous congenital hypothyroidism on chromosome 15q25.3 26.1 journal Hum. Genet. volume 118 ... evaluation In the developed world, nearly all cases of congenital hypothyroidism are detected ... differentiate congenital absence or a defect in organification a process necessary to make thyroid ... J title How should we be treating children with congenital hypothyroidism? journal J. Pediatr. Endocrinol ... as the child grows. Symptoms Infants born with congenital hypothyroidism may show no effects ... care. Prognosis Most children born with congenital hypothyroidism and correctly treated ... more details
Infobox Disease Name PAGENAME Image Hutchinson teeth congenital syphilis PHIL 2385.rsh.jpg Caption Notched incisors known as Hutchinson s teeth which are characteristic of congenital syphilis DiseasesDB 12744 ICD10 ICD10 A 50 a 50 ICD9 ICD9 090 ICDO OMIM MedlinePlus eMedicineSubj ped eMedicineTopic 2193 MeshID D013590 Congenital syphilis is syphilis present in utero and at birth, and occurs when a child is born to a mother with Syphilis Secondary secondary syphilis . Untreated syphilis results in a high risk of a bad outcome of pregnancy, including mulberry molar s in the fetus. Syphilis can cause miscarriage s, premature birth s, stillbirth s, or death of newborn babies. Some infants with congenital syphilis have symptoms at birth, but most develop symptoms later. Untreated babies can have ... stdsyph.htm accessed 10 17 2006. ref Classification Early This is a subset of cases of congenital syphilis ... and treated, these newborns develop poor feeding and rhinorrhea . By definition, early congenital ... lec13881 008.htm ref After, they can develop late congenital syphilis . Symptomatic newborns, if not stillbirth ... eMedicine Syphilis Article by Muhammad Waseem Bot generated title . ref Late Late congenital syphilis is a subset of cases of congenital syphilis. By definition, it occurs in children at or greater ... , enlargement of the sternal end of clavicle in late congenital syphilis. Death from congenital syphilis ... infected with syphilis, treatment can effectively prevent congenital syphilis from developing in the unborn ... congenital syphilis by 98 if she receives treatment before the last month of pregnancy. ref http www.webmd.com hw health guide atoz hw195492.asp?navbar hw195073 Congenital syphilis Bot generated ... of congenital syphilis stating that the greater the duration between the infection of the mother ... less chance of stillbirth and of developing congenital syphilis. ref cite journal last Singh first ... http www.wrongdiagnosis.com c congenital syphilis pictures.htm Images of Congenital Syphilis Manifestations ... more details
Infobox Disease Name Congenital disorders Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D009358 Disability A congenital disorder , or congenital disease ... deformities are termed congenital anomaly congenital anomalies that is a different concept MeSH which involves defects in or damage to a developing fetus . A congenital disorder may be the result ... ConsultantLive.com accessdate 25 September 2010 year 2010 unused data March 4, ref Congenital ... as a teratogen . The older term congenital ref cite book title Webster s Dictionary last first ... congenital accessdate ref disorder does not necessarily refer to a genetic disorder genetic disorder ... diagnosis screening . Classification Much of the language used for describing congenital conditions predates genomic mapping, and structural conditions are often considered separately from other congenital ..., and structural conditions often have genetic links. Still, congenital conditions are often classified ... structural main Congenital abnormality Several terms are used to describe congenital abnormalities ... in an individual condition. A congenital physical anomaly is an abnormality of the structure of a body .... Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical ... though many birth defects have no known cause. An example of a birth defect is cleft palate . A congenital malformation is a congenital physical anomaly that is deleterious, i.e. a structural defect ... are all congenital, though they may not be expressed or recognized until later in life. Genetic .... A congenital metabolic disease is also referred to as an inborn error of metabolism . Most of these are single ... accessdate 2010 05 04 ref Epidemiology Image Congenital anomalies world map DALY WHO2004.svg thumb Disability adjusted life year for congenital anomalies per 100,000 inhabitants in 2004. ref .... Fossil record Main Paleopathology Evidence for congenital deformities found in the fossil ... more details
Congenital hyperinsulinism is a medical term referring to a variety of congenital disorder s in which hypoglycemia is caused by excessive insulin secretion. Congenital forms of hyperinsulinemic hypoglycemia can be transient or persistent, mild or severe. These conditions are present at birth and most become apparent in early infancy. The severe forms can cause obvious problems in the first hour of life, but milder forms may not be detected until adult years. Mild cases can be treated by frequent feedings, more severe cases can be controlled by medications that reduce insulin secretion or effects ..., and persistent hyperinsulinemic hypoglycemia of infancy PHHI in the 1990s. Types of congenital hyperinsulinism ... Diffuse hyperinsulinism Autosomal recessive forms SUR1 mutations Kir6.2 mutations Congenital disorders ... history Manifestations of congenital hyperinsulinemic hypoglycemia vary by age and severity of the hypoglycemia ... if feeding is delayed. Congenital hyperinsulinism often becomes apparent later in the first year of life ... forms. Adults with the mildest degrees of congenital hyperinsulinism may simply have a decreased ... forms of congenital hyperinsulinism, especially those involving abnormalities of K sub ATP sub channel ... the blood glucose, but in most forms of congenital hyperinsulinism hypoglycemia recurs and the therapeutic ... that often accompanies severe congenital hyperinsulinism. It is hard for parents to continue frequent ... Congenital Hyperinsulinism Center Children s Hospital of Philadelphia http www.sur1.org Sur1 Hyperinsulinism Website for families of children with hyperinsulinism. http www.CongenitalHI.org Congenital ..., adults, and families living with congenital hyperinsulinism. http www.hi fund.org The Children ... the world who suffer from Congenital Hyperinsulinism. http www.hyperinsulinismus hilfe.de Netzwerk ... for Congenital Hyperinsulinism http www.medizin.uni greifswald.de ki chir Homepage of the Clinic for Pediatric Surgery, Universitymedicine Greifswald DEFAULTSORT Congenital Hyperinsulinism Category ... more details
Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D017880 Congenital limb deformities are congenital musculoskeletal system musculoskeletal disorders which primarily affect the upper and lower limbs. An example is polydactyly . External links http embryology.med.unsw.edu.au Notes skmus72.htm medicine stub Congenital malformations and deformations of musculoskeletal system Multiple abnormalities Category Congenital disorders of musculoskeletal system ... more details
Congenital endothelial dystrophy may refer to Congenital endothelial dystrophy type 1 Congenital endothelial dystrophy type 2 disambiguation Short pages monitor This long comment was added to the page to prevent it from being listed on Special Shortpages. It and the accompanying monitoring template were generated via Template Long comment. Please do not remove the monitor template without removing the comment as well. ... more details
Infobox Disease Name Congenital stenosis of vena cava Image Caption DiseasesDB ICD10 ICD10 Q 26 0 q 20 ICD9 ICD9 747.49 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Congenital stenosis of vena cava is a congenital anomaly in which the superior vena cava or inferior vena cava has an aberrant interruption or coarctation. In some cases, it can be asymptomatic. ref name pmid17161574 cite journal author Koc Z, Oguzkurt L title Interruption or congenital stenosis of the inferior vena cava prevalence, imaging, and clinical findings journal Eur J Radiol volume 62 issue 2 pages 257 66 year 2007 month May pmid 17161574 doi 10.1016 j.ejrad.2006.11.028 url http linkinghub.elsevier.com retrieve pii S0720 048X 06 00516 X ref References reflist Congenital vascular defects Category Congenital vascular defects medicine stub ... more details
Infobox disease Name Late congenital syphilitic oculopathy Image Alt Caption DiseasesDB ICD10 ICD10 A 50 3 a 50 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Late congenital syphilitic oculopathy is a disease of the human eye eye , a manifestation of late congenital syphilis . It can appear as Interstitial keratitis this commonly appears between ages 6 and 12. Symptoms include lacrimation and photophobia . Pathological vascularization of the cornea cause it to turn pink or salmon colored. 90 of cases affect both eyes. Episcleritis or scleritis nodules appear in or overlying the sclera white of eye Iritis or Iris anatomy iris papules vascular infiltration of the iris causes rosy color change and yellow red nodules. Chorioretinitis , papillitis, retinal vasculitis retinal changes can resemble retinitis pigmentosa . Exudative retinal detachment Congenital syphilis is categorized by the age of the child. Early congenital syphilis occurs in children under 2 years old, and late congenital syphilis in children at or greater that 2 years old. Manifestations of late congenital syphilis are similar to those of secondary syphilis and tertiary syphilis in adults. References reflist eMedicine http www.emedicine.com oph topic453.htm Ocular Manifestations of Syphilis Category Congenital disorders Category Bacterial diseases Category Diseases of the eye and adnexa Category Infections with a predominantly sexual mode of transmission ... more details
Congenital cartilaginous rest of the neck also known as a Cervical accessory tragus, and Wattle is a cutaneous condition characterized by branchial arch remnants that are considered to be the cervical variant of accessory tragus . ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages isbn 1 4160 2999 0 oclc doi accessdate ref See also Congenital smooth muscle hamartoma List of cutaneous conditions References reflist Congenital malformations and deformations of ears Category Cutaneous congenital anomalies ... more details
A Rapidly involuting congenital hemangioma also known as a Congenital non progressive hemangioma ref name Bolognia is a cutaneous condition characterized by a fully developed congenital hemangioma at birth. ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages isbn 1 4160 2999 0 oclc doi accessdate ref See also Infantile hemangioma List of cutaneous conditions References reflist Dermatology stub Category Cutaneous congenital anomalies pt Hemangioma cong nito rapidamente involutivo ... more details
Infobox Disease Name PAGENAME Image Skin tumors 687.jpg Caption Deep congenital nevus DiseasesDB ICD10 D22 ILDS D22.L60 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID The congenital melanocytic ... 15 of the time. The congenital melanocytic nevus plural, nevi presents as a circumscribed, light ... area and any part of the body. The appearance of the congenital melanocytic nevus is similar to those of nevi acquired after birth. However, congenital ones are usually larger in diameter and may ... as large or giant congenital melanocytic nevus . The estimated prevalence for the largest forms is 0.002 of births ref cite journal last Price first HN coauthors Schaffer, JV title Congenital ... date 2010 May Jun volume 28 issue 3 pages 293 302 pmid 20541682 ref . Microscopically, congenital melanocytic nevi appear similar to acquired nevi with two notable exceptions. For the congenital ..., MA, Kapur, P, Davis, A, Mihm MC, Jr, Hoang, MP title Proliferative nodules arising within congenital ... Large congenital melanocytic nevus cite web last Etchevers first Heather title Large congenital melanocytic ... 20diseases Congenital pigmented nevus&title Congenital pigmented nevus&search Disease Search Simple ... et de la recherche m dicale accessdate 2 August 2011 ref . Types Congenital melanocytic nevi may be divided ... year 2006 pages isbn 0 7216 2921 0 oclc doi accessdate ref rp 690 1 Large or giant congenital melanocytic nevus Bathing trunk nevus, Giant pigmented nevus Medium sized congenital nevus Small sized congenital nevus Clinical Findings File Congenital nevus from CDC.jpg thumb Congenital nevus. Note ... have variation in color, and the surface might be textured with proliferative growths. Benign congenital ... of the ABCD rules. Dermatoscopic findings of the smaller forms of benign congenital nevi can aid ... Potential Large and especially giant congenital nevi are at higher risk for malignancy degeneration ... congenital nevi electively in all patients and relieve the nevocytic overload. Treatment Surgical ... more details
Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD10 D 55 d 55 ICD10 D 58 d 55 ICD9 ICD9 282 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D000745 Congenital hemolytic anemia or hereditary hemolytic anemia refers to hemolytic anemia which is primarily due to congenital disorder s. ref name pmid12084953 cite journal author Rahman SA, Jamal CY title Congenital hemolytic anemia in Bangladesh types and clinical manifestations journal Indian Pediatr volume 39 issue 6 pages 574 7 year 2002 month June pmid 12084953 doi url ref Types Basically classified by causative mechanism , types of congenital hemolytic anemia include Genetic conditions of RBC Membrane Hereditary spherocytosis Hereditary elliptocytosis Genetic conditions of RBC metabolism enzyme defects . This group is sometimes called congenital nonspherocytic hemolytic anemia , which is a term for a congenital hemolytic anemia without spherocytosis, and usually excluding hemoglobin abdormalities as well, but rather encompassing defects of glycolysis in the erythrocyte. ref http medconditions.net hemolytic congenital nonspherocytic anemia.html medconditions.net Hemolytic Congenital, Nonspherocytic Anemia Definition Retrieved April 15, 2011 ref Glucose 6 phosphate dehydrogenase deficiency G6PD or favism Pyruvate kinase deficiency Hemoglobinopathies ref name pmid15567909 cite journal author Shah A title Hemoglobinopathies and other congenital hemolytic anemia journal Indian J Med Sci volume 58 issue 11 pages 490 3 year 2004 month November pmid 15567909 doi url ref genetic conditions of hemoglobin Sickle cell anemia Congenital dyserythropoietic anemia Thalassemia See also Hematopoietic ulcer List of circulatory system conditions References reflist Hematology Category Hereditary hemolytic anemias ... more details
Congenital pulmonary airway malformation CPAM is a hamartomatous lesion of the lung, with an incidence of about 1 in 5,000 live births. It can be separated into five types, based on clinical and pathologic features. ref http www.webcitation.org 65ESBMCwn Nihal Kilin et al, Congenital Pulmonary Airway Malformation Case Report . Perinatal Journal , vol. 15, issue 1 April 2007 ref CPAM type 1 is the most common, with large cyst s and a good prognosis. CPAM type 2 with medium sized cysts often has a poor prognosis, owing to its frequent association with other significant anomalies. Other types are rare. ref Robbins and Cotran, Pathologic Basis of Disease 7th ed. ref References Reflist External links http rad.usuhs.edu medpix kiosk image.html?mode case viewer&pt id 13616&imageid 53551&top pic Congenital Cystic Adenomatoid Malformation Congenital Pulmonary Airway Malformation Radiology and Pathology Category Congenital disorders of respiratory system ... more details
Infobox Non profit Non profit name Congenital Heart Surgeons Society Non profit logo Non profit type founded date mid 1950s founder cardiac surgeons location 500 Cummings Center, Suite 4550, Beverly, MA, 01915, United States this parameter modifies Headquarters origins key people area served product mission focus congenital heart defects method revenue endowment num volunteers num employees num members ... Congenital Heart Surgeons Society CHSS is a professional membership organization of heart surgeons who specialize in treating congenital heart defects . The society is a non profit organization registered ... experience in operating on children with congenital heart defects. The CHSS purpose is to associate persons interested in, and carry on activities related to, the science and practice of congenital ... the knowledge of congenital cardiac physiology, pathology and therapy, and to correlate and disseminate such knowledge. Membership Individuals who have a significant interest in congenital heart surgery may apply for membership in the Congenital Heart Surgeons Society CHSS . There are three types ... proposed that the centers pool their experience and data in managing infants with rare congenital ... in Birmingham, Alabama ref http www.chssdc.org content history History The Congenital Heart Surgeons ... of surgical interventions in congenital heart disease ref http www.ncbi.nlm.nih.gov pubmed 20307865 The Congenital Heart Surgeons Society Data Center unique attributes as a research organization ... Center is to improve care for patients with congenital heart disease through collaborative research ... arteries , congenital valvular heart disease , coarctation of aorta , hypoplastic left heart syndrome ... Society of Thoracic Surgeons, European Association of Congenital Heart Surgeons, etc. References ... www.chss.org CHSS http www.chssdc.org CHSS Data Center Congenital heart defects Categories Category Heart disease organizations Category Congenital heart disease ... more details
Congenital onychodysplasia of the index fingers is defined by the presence of the condition at birth, either unilateral or bilateral index finger involvement, variable distortion of the nail or Lunula anatomy lunula , and polyonychia, micronychia, anonychia , hemionychogryphosis, or malalignment. ref name Andrews James, William Berger, Timothy Elston, Dirk 2005 . Andrews Diseases of the Skin Clinical Dermatology . 10th ed. . Saunders. ISBN 0 7216 2921 0. ref rp 783 The original paper was Congenital onychodysplasia of the index fingers 1974 , Kikuchi I, Horikawa S, Amano F. Arch Dermatol 110 5 ,743 746. ref Congenital onychodysplasia of the index fingers 1974 , Kikuchi I, Horikawa S, Amano F. Arch Dermatol 110 5 ,743 746. ref This condition is also called Iso Kikuchi syndrome, since Iso was the first author who published it in a Japanese paper. ref 11.Baran R, Stroud JD. Congenital onychodysplasia of the index fingers. Iso and Kikuchi syndrome. Arch Dermatol. Feb 1984 120 2 243 4. ref See also List of cutaneous conditions References reflist External links http emedicine.medscape.com article 1106525 overview Congenital onychodysplasia of the index fingers e Medicine The title, Congenital ins onychodystrophy ins of the index fingers is a mistake. Category Conditions of the skin appendages skin appendage stub ... more details
Congenital fiber type disproportion CFTD is an inherited form of myopathy with small Muscle fibers Muscle fibers type 1 muscle fibers that may occur in a number of neurological disorders. ref name Review03 cite journal author Clarke NF, North KN title Congenital fiber type dispropsortion 30 years on journal J. Neuropathol. Exp. Neurol. volume 62 issue 10 pages 977 89 year 2003 month October pmid 14575234 doi url ref It has a relatively good outcome and follows a stable course. ref cite journal author Na SJ, Kim WK, Kim TS, Kang SW, Lee EY, Choi YC title Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance journal Yonsei Med. J. volume 47 issue 4 pages 513 8 year 2006 month August pmid 16941741 pmc 2687732 doi url ref While the exact genetics is unclear there is an association with TPM3, ACTA1 and SEPN1 gene mutations. ref cite journal author Clarke NF, Kolski H, Dye DE, et al. title Mutations in TPM3 are a common cause of congenital fiber type disproportion journal Ann. Neurol. volume 63 issue 3 pages 329 37 year 2008 month March pmid 18300303 doi 10.1002 ana.21308 url ref It is a rare condition. ref cite journal author Sharma MC, Ralte AM, Atri SK, Gulati S, Kalra V, Sarkar C title Congenital fiber type disproportion a rare type of congenital myopathy a report of four cases journal Neurol India volume 52 issue 2 pages 254 6 year 2004 month June pmid 15269486 doi url ref History The condition was named by M. H. Brooke in 1973. ref name Review03 References reflist Category Congenital disorders ... more details
Refimprove date December 2007 Infobox Disease Name PAGENAME Image Cataracts due to Congenital Rubella Syndrome CRS PHIL 4284 lores.jpg Caption Congenital Cataracts white pupils due to congenital rubella syndrome DiseasesDB 11729 ICD10 ICD10 P 35 0 p 35 ICD9 ICD9 771.0 ICDO OMIM MedlinePlus 001658 eMedicineSubj emerg eMedicineTopic 388 MeshID D012410 Congenital rubella syndrome CRS can occur in a developing fetus of a pregnant woman who has contracted rubella during her first trimester. If infection occurs 0 28 days before conception, there is a 43 chance the infant will be affected. If the infection occurs 0 12 weeks after conception, there is a 51 chance the infant will be affected. If the infection occurs 13 26 weeks after conception there is a 23 chance the infant will be affected by the disease. Infants are not generally affected if rubella is contracted during the third trimester, or 26 40 weeks after conception. Problems rarely occur when rubella is contracted by the mother after 20 weeks of gestation and continues to disseminate the virus after birth. It was discovered in 1941 by Australian Norman Gregg Norman McAllister Gregg . Presentation Image Rubella serology.png right thumb 300px Congenital rubella serology time line The classic triad for congenital rubella syndrome is Sensorineural hearing loss Sensorineural deafness 58 of patients Eye abnormalities especially retinopathy , cataract and microphthalmia 43 of patients Congenital heart disease especially patent ductus arteriosus 50 of patients Image Congenital Rubella Syndrome, Salt and Pepper Retinopathy.jpg right thumb Salt and pepper retinopathy of the retina is the most common ocular manifestation of congenital ... age against rubella can prevent congenital rubella syndrome. References reflist External links http www.sense.org.uk publicationslibrary allpubs rubella R03.htm Delayed effects of Congenital ... period Diseases of maternal transmission Category Congenital disorders Category Syndromes Category ... more details
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