A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure.
Complex syndactyly occurs as part of a syndrome (such as Apert syndrome ) and typically involves more digits than simple syndactyly. ... This type of syndactyly is found in amniotic band syndrome . Simple syndactyly can be full or partial, and is present at birth (congenital). ... External links [ edit ] Classification D ICD - 10 : Q70 ICD - 9-CM : 755.1 OMIM : 185900 186100 186200 186300 MeSH : D013576 DiseasesDB : 29330 External resources MedlinePlus : 003289 eMedicine : orthoped/563 Media related to Syndactyly at Wikimedia Commons v t e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome hand deformity Madelung's deformity Clinodactyly Oligodactyly Polydactyly Leg hip Hip dislocation / Hip dysplasia Upington disease Coxa valga Coxa vara knee Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation foot deformity varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe Either / both fingers and toes Polydactyly / Syndactyly Webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Stub thumb reduction deficits / limb Acheiropodia Ectromelia Phocomelia Amelia Hemimelia multiple joints Arthrogryposis Larsen syndrome RAPADILINO syndrome Axial Skull and face Craniosynostosis Scaphocephaly Oxycephaly Trigonocephaly Craniofacial dysostosis Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose Vertebral column Spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum
Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata.
In a kindred originating in Sardinia, Rosenberg and Lohr (1986) found many cases of a seemingly 'new' autosomal dominant syndrome. They studied a father and 2 sons in detail.
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.
Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family.
A number sign (#) is used with this entry because of evidence that paroxysmal nonkinesigenic dyskinesia-3 with or without generalized epilepsy (PNKD3) is caused by heterozygous mutation in the KCNMA1 gene (600150) on chromosome 10q22. For a discussion of genetic heterogeneity of paroxysmal nonkinesigenic dyskinesia, see PNKD1 (118800). Clinical Features The coexistence of epilepsy and paroxysmal dyskinesia in the same individual or family had been described by Guerrini (2001), Guerrini et al. (2002), and others. Du et al. (2005) studied a large family of European descent with the combination of generalized epilepsy and paroxysmal dyskinesia (GEPD). Among 16 affected individuals, 4 developed isolated epileptic seizures, 7 had isolated paroxysmal nonkinesigenic dyskinesia, and 5 had both phenotypes.
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot.
Description Patients with Richieri-Costa-Pereira syndrome display a pattern of anomalies consisting of microstomia, micrognathia, abnormal fusion of the mandible, cleft palate/Robin sequence, absence of lower central incisors, minor ear anomalies, hypoplastic first ray, abnormal tibiae, hypoplastic halluces, and clubfeet. ... Tabith and Bento-Goncalves (1996) examined 5 patients with the Richieri-Costa-Pereira syndrome, 3 of whom had previously been reported by Richieri-Costa and Pereira (1992, 1993). ... Tabith and Bento-Goncalves (1996) concluded that these anatomic and functional abnormalities cause the voice disorder (marked hoarseness and breathiness) characteristic of the syndrome. Tabith and Bento-Goncalves (2003) examined 2 additional patients with this syndrome and found the same laryngeal alterations and voice characteristics. Walter-Nicolet et al. (1999) described this syndrome in a newborn French boy who probably represented the first non-Brazilian case.
MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features.
A number sign (#) is used with this entry because of evidence that autosomal dominant vitreoretinochoroidopathy (VRCP) is caused by heterozygous mutation in the bestrophin-1 gene (BEST1; 607854) on chromosome 11q12. Clinical Features Under the designation autosomal dominant vitreoretinochoroidopathy (ADVIRC), Kaufman et al. (1982) described a seemingly 'new' fundus dystrophy characterized by chorioretinal hypopigmentation and hyperpigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees. In this zone, a discrete posterior boundary, preretinal punctate white opacities, retinal arteriolar narrowing and occlusion, and, in some cases, choroidal atrophy are found. Most affected persons in the 1 kindred observed by Kaufman et al. (1982) had diffuse retinal vascular incompetence, cystoid macular edema, and presenile cataracts. Fibrillar condensation and a moderate pleocytosis characterized the vitreous.
A number sign (#) is used with this entry because the disorder is caused by mutation in the COX4I2 gene (607976). Clinical Features Shteyer et al. (2009) reported 3 brothers from a consanguineous Arab Muslim family with exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. They presented with steatorrhea, failure to thrive, and anemia soon after birth. Supplementation with pancreatic enzymes improved the steatorrhea, but growth was not normal until about 4 years of age. Red blood cell transfusions improved the anemia in 2 patients, but not in the third, who developed hepatosplenomegaly and episodic jaundice associated with mild indirect hyperbilirubinemia.
A number sign (#) is used with this entry because it represents a contiguous gene syndrome involving deletion of chromosome Xp11.3, including the RP2 gene (300757). ... Zhang et al. (2006) concluded that the disorder in this family is a contiguous gene deletion syndrome and that absence of the RP2 gene accounts for retinal degeneration. ... Lugtenberg et al. (2006) identified a patient with learning disabilities, retinal dystrophy, and short stature whose family history was suggestive of an X-linked contiguous gene syndrome. By array-based comparative genomic hybridization with full-coverage X-chromosomal BAC arrays, they found a deletion of approximately 1 Mb in Xp11.3.
Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature.
PMID 12407439 . ^ Callander, N; S I Rapaport (1993). "Trousseau's syndrome" . Western Journal of Medicine . 158 (4): 364–371. ... PMID 8317122 . ^ " Trousseau sign " at Dorland's Medical Dictionary ^ Callander, N; S I Rapaport (1993). "Trousseau's syndrome" . Western Journal of Medicine . 158 (4): 364–371. ... "Microvesicle-associated tissue factor and Trousseau's syndrome" . J Thromb Haemost . 5 (1): 70–4. doi : 10.1111/j.1538-7836.2006.02301.x . ... "Selectin-mucin interactions as a probable molecular explanation for the association of Trousseau syndrome with mucinous adenocarcinomas" . ... PMID 12975470 . ^ Varki, Ajit (2007). "Trousseau's syndrome: multiple definitions and multiple mechanisms" .
PVS was the key finding that led Jacqueline Noonan to identify the syndrome now called Noonan syndrome . Contents 1 Symptoms and signs 2 Cause 3 Pathophysiology 4 Diagnosis 5 Treatment 6 Epidemiology 7 References 8 Further reading 9 External links Symptoms and signs [ edit ] Cynosis Among some of the symptoms consistent with pulmonary valve stenosis are the following: [2] Heart murmur Cyanosis Dyspnea Dizziness Upper thorax pain Developmental disorders Cause [ edit ] In regards to the cause of pulmonary valve stenosis a very high percentage are congenital, the right ventricular flow is hindered (or obstructed by this). ... Once the obstruction is subdued, it (the left ventricle) can return to normal. [8] Diagnosis [ edit ] Play media Pulmonary valve stenosis- Echocardiogram The diagnosis of pulmonary valve stenosis can be achieved via echocardiogram , as well as a variety of other means among them are: ultrasound , in which images of the heart chambers in utero where the tricuspid valve has thickening (or due to Fallot's tetralogy , Noonan's syndrome , and other congenital defects) and in infancy auscultation of the heart can reveal identification of a murmur. [4] Some other conditions to contemplate (in diagnosis of pulmonic valvular stenosis) are the following: [2] Infundibular stenosis Supravalvular pulmonary stenosis Dysplastic pulmonic valve stenosis Treatment [ edit ] In terms of treatment for pulmonary valve stenosis, valve replacement or surgical repair (depending upon whether the stenosis is in the valve or vessel) may be indicated. ... External links [ edit ] Overview at American Heart Association Classification D ICD - 10 : I37.0 , I37.2 , Q22.1 ICD - 9-CM : 424.3 , 746.02 OMIM : 265500 MeSH : D011666 External resources MedlinePlus : 001096 eMedicine : emerg/491 [1] Scholia has a topic profile for Pulmonary valve stenosis . v t e Cardiovascular disease (heart) Ischaemic Coronary disease Coronary artery disease (CAD) Coronary artery aneurysm Spontaneous coronary artery dissection (SCAD) Coronary thrombosis Coronary vasospasm Myocardial bridge Active ischemia Angina pectoris Prinzmetal's angina Stable angina Acute coronary syndrome Myocardial infarction Unstable angina Sequelae hours Hibernating myocardium Myocardial stunning days Myocardial rupture weeks Aneurysm of heart / Ventricular aneurysm Dressler syndrome Layers Pericardium Pericarditis Acute Chronic / Constrictive Pericardial effusion Cardiac tamponade Hemopericardium Myocardium Myocarditis Chagas disease Cardiomyopathy Dilated Alcoholic Hypertrophic Tachycardia-induced Restrictive Loeffler endocarditis Cardiac amyloidosis Endocardial fibroelastosis Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis infective endocarditis Subacute bacterial endocarditis non-infective endocarditis Libman–Sacks endocarditis Nonbacterial thrombotic endocarditis Valves mitral regurgitation prolapse stenosis aortic stenosis insufficiency tricuspid stenosis insufficiency pulmonary stenosis insufficiency Conduction / arrhythmia Bradycardia Sinus bradycardia Sick sinus syndrome Heart block : Sinoatrial AV 1° 2° 3° Intraventricular Bundle branch block Right Left Left anterior fascicle Left posterior fascicle Bifascicular Trifascicular Adams–Stokes syndrome Tachycardia ( paroxysmal and sinus ) Supraventricular Atrial Multifocal Junctional AV nodal reentrant Junctional ectopic Ventricular Accelerated idioventricular rhythm Catecholaminergic polymorphic Torsades de pointes Premature contraction Atrial Junctional Ventricular Pre-excitation syndrome Lown–Ganong–Levine Wolff–Parkinson–White Flutter / fibrillation Atrial flutter Ventricular flutter Atrial fibrillation Familial Ventricular fibrillation Pacemaker Ectopic pacemaker / Ectopic beat Multifocal atrial tachycardia Pacemaker syndrome Parasystole Wandering atrial pacemaker Long QT syndrome Andersen–Tawil Jervell and Lange-Nielsen Romano–Ward Cardiac arrest Sudden cardiac death Asystole Pulseless electrical activity Sinoatrial arrest Other / ungrouped hexaxial reference system Right axis deviation Left axis deviation QT Short QT syndrome T T wave alternans ST Osborn wave ST elevation ST depression Strain pattern Cardiomegaly Ventricular hypertrophy Left Right / Cor pulmonale Atrial enlargement Left Right Athletic heart syndrome Other Cardiac fibrosis Heart failure Diastolic heart failure Cardiac asthma Rheumatic fever v t e Congenital heart defects Heart septal defect Aortopulmonary septal defect Double outlet right ventricle Taussig–Bing syndrome Transposition of the great vessels dextro levo Persistent truncus arteriosus Aortopulmonary window Atrial septal defect Sinus venosus atrial septal defect Lutembacher's syndrome Ventricular septal defect Tetralogy of Fallot Atrioventricular septal defect Ostium primum Consequences Cardiac shunt Cyanotic heart disease Eisenmenger syndrome Valvular heart disease Right pulmonary valves stenosis insufficiency absence tricuspid valves stenosis atresia Ebstein's anomaly Left aortic valves stenosis insufficiency bicuspid mitral valves stenosis regurgitation Other Underdeveloped heart chambers right left Uhl anomaly Dextrocardia Levocardia Cor triatriatum Crisscross heart Brugada syndrome Coronary artery anomaly Anomalous aortic origin of a coronary artery Ventricular inversion
Having German measles during pregnancy increases the risk of pulmonary valve stenosis in the baby. Noonan syndrome. This condition is caused by altered DNA. ... It increases the risk of developing pulmonary valve stenosis later in life. Carcinoid syndrome. This condition occurs when a rare cancerous tumor releases certain chemicals into the bloodstream. It causes shortness of breath, flushing and other symptoms. Some people with this syndrome develop carcinoid heart disease, which damages heart valves.
For the phenomenon whereby the intestine wall exhibits excessive permeability, see Intestinal permeability . Leaky gut syndrome Pseudomedical diagnosis Risks Nocebo This article is part of a series on Alternative medicine General information Alternative medicine Alternative veterinary medicine Quackery (Health fraud) History of alternative medicine Rise of modern medicine Pseudoscience Antiscience Skepticism Skeptical movement National Center for Complementary and Integrative Health Terminology of alternative medicine Therapeutic nihilism Fringe medicine and science Acupressure Acupuncture Alkaline diet Anthroposophic medicine Apitherapy Applied kinesiology Aromatherapy Auriculotherapy Bates method Black salve Bodywork Bonesetter Bowen technique Breathwork Fake COVID-19 treatments Cancer treatments Charcoal cleanse Chiropractic Chiropractic treatment techniques Vertebral subluxation Christian Science Chromotherapy Colon cleansing Coffee enema Colorpuncture Colloidal silver Craniosacral therapy Crystal healing Cupping therapy Dental amalgam controversy Detoxification Foot detox Ear candling Energy medicine Esoteric energy Therapeutic touch Fabunan Antiviral Injection Facilitated communication Feldenkrais Method Functional medicine Hair analysis Herbal medicine Holistic dentistry Hologram bracelet Homeopathy Bach flower remedies Biological terrain assessment Hypnotherapy Iridology Ionized jewelry Jilly Juice Lightning Process Lymphotherapy Medical intuitive Mesmerism Magnet therapy Manual therapy Megavitamin therapy Mind–body interventions MMS Myofascial release NAET Naturopathy Oil pulling Orgone Orthomolecular medicine Orthopathy Osteomyology Osteopathy Ozone therapy Parapsychology Phrenology Psychic surgery Psychodermatology Radionics Rapid prompting method RBOP Reiki Reflexology Rolfing Scientific racism ThetaHealing Thought Field Therapy Urophagia Vaginal steaming Vision therapy Vitalism Young blood transfusion Zero balancing Conspiracy theories ( list ) Big Pharma conspiracy theory HIV/AIDS denialism OPV AIDS hypothesis Anti-vaccination Vaccines and autism MMR vaccine and autism Water fluoridation controversy GMO conspiracy theories Misinformation related to the COVID-19 pandemic Classifications Alternative medical systems Mind–body intervention Biologically-based therapy Manipulative methods Energy therapy Traditional medicine African Muti Southern Africa Ayurveda Ayurvedic acupressure Dosha Maharishi Vedic Approach to Health Balneotherapy Brazilian Bush medicine Cambodian Chinese Blood stasis Chinese herbology Dit Da Gua sha Gill plate trade Meridian Moxibustion Pressure point Qi San Jiao Tui na Zang-fu Chumash Curandero Faith healing Iranian Jamu Kambo Japanese Korean Mien Shiang Mongolian Prophetic medicine Shamanism Shiatsu Siddha Sri Lankan Thai massage Tibetan Unani Vietnamese Diagnoses Adrenal fatigue Aerotoxic syndrome Candida hypersensitivity Chronic Lyme disease Electromagnetic hypersensitivity Heavy legs Leaky gut syndrome Multiple chemical sensitivity Wilson's temperature syndrome v t e Leaky gut syndrome is a hypothetical, medically unrecognized condition. [1] Unlike the scientific phenomenon of increased intestinal permeability ("leaky gut"), [1] [2] claims for the existence of "leaky gut syndrome" as a distinct medical condition come mostly from nutritionists and practitioners of alternative medicine . [1] [3] [4] Proponents claim that a "leaky gut" causes chronic inflammation throughout the body that results in a wide range of conditions, including chronic fatigue syndrome , rheumatoid arthritis , lupus , migraines , multiple sclerosis , and autism . [1] [3] As of 2016 [update] , there is little evidence to support the hypothesis that leaky gut syndrome directly causes this wide array of diseases. [1] [5] Stephen Barrett has described "leaky gut syndrome" as a fad diagnosis and says that its proponents use the alleged condition as an opportunity to sell a number of alternative-health remedies – including diets, herbal preparations, and dietary supplements. [4] In 2009, Seth Kalichman wrote that some pseudoscientists claim that the passage of proteins through a "leaky" gut is the cause of autism. [6] The belief that a "leaky gut" might actually cause autism is popular among the public, but the evidence is weak and what evidence exists is conflicting. [7] Advocates tout various treatments for "leaky gut syndrome", such as dietary supplements , probiotics , herbal remedies, gluten -free foods, and low- FODMAP , low-sugar, or antifungal diets, but there is little evidence that the treatments offered are of benefit. [1] None have been adequately tested to determine if they are safe and effective for this purpose. [3] The U.K. National Institute for Health and Care Excellence (NICE) does not recommend the use of any special diets to manage the main symptoms of autism or leaky gut syndrome. [1] See also [ edit ] Autistic enterocolitis List of topics characterized as pseudoscience Mark Hyman References [ edit ] ^ a b c d e f g "Leaky gut syndrome" . ... PMID 27435372 . v t e Pseudoscience Terminology Cargo cult science Charlatan Crank Fringe theory Fringe science Pseudoarchaeology Pseudohistory Junk science Paranormal Pathological science Quackery Snake oil Crocodile oil Superseded scientific theory True-believer syndrome Voodoo Science Topics characterized as pseudoscience 2012 phenomenon Acupuncture Adrenal fatigue Alchemy Alternative medicine Ancient astronauts Anthroposophic medicine Applied kinesiology Aquatic ape hypothesis Astrology Bates method Biodynamic agriculture Biorhythms Bloodletting Body memory Catastrophism Chiropractic Chromotherapy Conspiracy theory 5G conspiracy 9/11 conspiracy theories Chemtrail conspiracy theory Climate change denial Misinformation related to the COVID-19 pandemic Moon landing conspiracy theories Conversion therapy Correactology Creation science Cryonics Cryptozoology Crystal healing Cupping Detoxification Colon cleansing Dianetics Doctrine of signatures Doktor Koster's Antigaspills Dowsing Ear candling Electromagnetic hypersensitivity Electronic voice phenomenon Eugenics Facilitated communication Feng shui Flat Earth theory Germ theory denialism Graphology HIV/AIDS denialism Hollow Earth theory Homeopathy Humorism Indigo children Intelligent design Japhetic theory Levitation Lunar effect Lysenkoism Magnet therapy Mediumship Miracle Mineral Supplement Naturopathy Nazi archaeology Nibiru cataclysm Numerology Orgone Palmistry Panchagavya Patent medicine Perpetual motion Phrenology Polygraph Primal therapy Pseudoarchaeology Pseudohistory Genocide denial Historical negationism Holocaust denial Pseudoscientific metrology Psychohistory Quantum mysticism Rapid prompting method Recovered-memory therapy Reiki Scientific racism Aryan race Melanin theory Statement analysis Trepanning Ufology Vertebral subluxation Voice stress analysis Water memory Promoters of pseudoscience Sucharit Bhakdi Deepak Chopra Gaia, Inc.
Genetic Counseling. SAMD9L -related ATXPC syndrome is inherited in an autosomal dominant manner. ... Perform sequence analysis of SAMD9L . Note: SAMD9L -related ATXPC syndrome is postulated to occur through a gain-of-function mechanism. ... Because the prominent medical problem in many individuals with ATXPC syndrome is hematopoietic cytopenias, and neurologic impairment may be minimal, acquired bone marrow failure syndromes such as aplastic anemia or idiopathic thrombocytopenia purpura would also be included in the differential diagnosis. ... Spinocerebellar syndrome in males manifest primarily as delayed walking, ataxia evident in early childhood, dysmetria, and dysdiadochokinesis. ... Significant developmental delay is present in the two clinical variants – Hoyeraal-Hreidarsson syndrome and Revesz syndrome – in which additional findings include, respectively: cerebellar hypoplasia and ataxia; and bilateral exudative retinopathy and intracranial calcifications.
Similar syndromes include Jerusalem syndrome and Stendhal syndrome . ... However, Michel Lejoyeux, head of psychiatry at Bichat–Claude Bernard Hospital in Paris, noted in an interview that "Traveler’s syndrome is an old story", and pointed to Stendhal syndrome . ... パリ症候群の1症例についての考察 [Reflexions on a case of Paris syndrome]. 日生病院医学雑誌 [ Journal of the Nissei Hospital ] (in Japanese). ... 御理解のほど宜しくお願いいたします ^ Chrisafis, Angelique (25 October 2006). "Paris syndrome hits Japanese" . The Guardian . ... Retrieved 25 November 2014 . ^ Nussbaum, Ania (14 August 2014). "The Paris Syndrome Drives Chinese Tourists Away" .
Pseudopelade of Brocq (PBB) is a slowly progressive, chronic condition characterized by scarring hair loss ( cicatricial alopecia ). There exists some controversy as to whether PBB is a distinct condition or the common final stage or variant of several different forms of scarring alopecias, such as discoid lupus erythematosus (DLE) or lichen planopilaris (LPP) . PBB is classified into two categories depending on whether a scarring alopecia is present (burnt-out or end-stage scarring) or not (idiopathic). The patches of hair loss present in PBB may be single or multiple. They are usually small, discrete, round or oval, and asymmetrical. The underlying skin is typically smooth, soft, and flesh-colored or white, with little, if any, inflammation.
Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation.