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PolydactylyBassen-KornzweigBardet-BiedlPatients with Kallmann syndromeAbnormalitiesKallmannDeficiencyVelocardiofacial syndromeDisordersKallman'sNoonan2020RenalDiseaseUsherInherited as an autosomalRetinitisDiseasesInsulinSymptomsDystrophyMutationsTurner'sKlinefelter'sMalesCharacteristicsHereditaryALMS1PhenotypeComplex syndromeSevere
Polydactyly4
  • Laurence-Moon is a syndrome (set of related attributes) caused by a genetic mutation and characterized by the eye condition known as retinitis pigmentosa (RP) in addition to a variety of features that may include speech delay, learning disability , short stature, kidney disease, type 2 diabetes, polydactyly (extra fingers), obesity, weakness of the legs, and reproductive issues (including small male genitalia). (familyconnect.org)
  • 3) A case of laryngeal web with polydactyly associated with Laurence Moon Beidl-Bardet syndrome is also reported. (pediatriconcall.com)
  • Laurence-Moon syndrome is characterized by obesity, intellectual disability , retinitis pigmentosa, and polydactyly. (symptoma.com)
  • 2007). Although AS bears many similarities to Bardet-Biedl syndrome (BBS), there is no cognitive impairment, polydactyly, or hypogonadism in AS. (preventiongenetics.com)
Bassen-Kornzweig1
Bardet-Biedl10
  • In the past, LMS has also been referred to as Laurence-Moon-Bardet-Biedl or Laurence-Moon-Biedl-Bardet syndrome, but Bardet-Biedl syndrome (BBS) is now usually recognized as a separate entity. (wikipedia.org)
  • Recent advances in genetic typing of the phenotypically-wide variation in patients clinically diagnosed with either Bardet-Biedl Syndrome (BBS) or Laurence-Moon Syndrome (LMS) have questioned whether LMS and BBS are genetically distinct. (wikipedia.org)
  • Previously diagnosed as "Laurence-Moon-Bardet-Biedl syndrome," this is now differentiated as "Laurence-Moon syndrome" or "Biedl-Bardet syndrome," both rare genetic disorders with overlapping characteristics. (familyconnect.org)
  • Bardet-Biedl Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
  • This graph shows the total number of publications written about "Bardet-Biedl Syndrome" by people in this website by year, and whether "Bardet-Biedl Syndrome" was a major or minor topic of these publications. (uchicago.edu)
  • Below are the most recent publications written about "Bardet-Biedl Syndrome" by people in Profiles. (uchicago.edu)
  • He was a known case of Laurence-Moon-Bardet-Biedl syndrome and had received a renal transplant 2 years ago and was receiving tacrolimus since then. (aku.edu)
  • In previous years, Laurence-Moon-Bardet-Biedl syndrome (LMBBS) was a term used to describe an inherited genetic condition that affected approximately 1 in 100,000 babies born. (netlify.app)
  • Visste du att: Varje år föds det drygt 100 barn med Downs syndrom i Sverige Se hela listan på netdoktor.se Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. (netlify.app)
  • His mother told me about LMBBS which stands for Laurence-Moon-Bardet-Biedl Syndrome, a recessive inherited genetic disorder with a whole range of symptoms, one of which is blindness. (seido.org.uk)
Patients with Kallmann syndrome1
  • Genetic analysis in patients with Kallmann syndrome: coexistance of mutations in prokineticin receptor 2 and KAL1. (medscape.com)
Abnormalities7
  • Congenital renal abnormalities in the Laurence-Moon-Biedl syndrome. (bmj.com)
  • Of all the chromosomal abnormalities that result in spontaneous abortion or miscarriage, Turner's syndrome is the most common, accounting for about 20 percent of all miscarriages. (encyclopedia.com)
  • It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
  • Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
  • A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. (sdsu.edu)
  • Abnormalities in the limbs and extremities may occur in Noonan syndrome. (handwiki.org)
  • This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. (rush.edu)
Kallmann5
  • Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (medscape.com)
  • PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling-activity. (medscape.com)
  • Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. (medscape.com)
  • Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. (medscape.com)
  • Causes of male infertility - UpToDate Causes of male infertility Endocrine and systemic disorders (hypogonadotropic hypogonadism) Congenital disorders Congenital GnRH deficiency (Kallmann syndrome) Iron overload syndromes Multiorgan genetic disorders (Prader-Willi syndrome, Laurence-Moon-Biedl syndrome, familial cerebellar ataxia) Low sperm count (oligospermia) A malfunctioning immune system. (ubbcluj.ro)
Deficiency1
  • Diabetes mellitus (DM) is a syndrome of chronic hyperglycaemia due to relative insulin deficiency, resistance or both. (basicmedicalkey.com)
Velocardiofacial syndrome1
  • 2) Many cases of anterior glottic webs have been reported to be associated with deletion of chromosome 22q11, causing a wide range of phenotype like Di George syndrome, velocardiofacial syndrome or shprintzen syndrome. (pediatriconcall.com)
Disorders1
  • It ranks third place among child development disorders in front of congenital malformations and Down's syndrome 21 . (bvsalud.org)
Kallman's2
  • Kallman's syndrome (KS) is the most frequent cause of hypogonadotropic hypogonadism and affects approximately one in 10,000 males and one in 50,000 females. (encyclopedia.com)
  • Kallman's syndrome is found in all ethnic backgrounds. (encyclopedia.com)
Noonan12
  • A 12-year-old girl with Noonan syndrome, displaying typical webbed neck and double structural curve with rib deformity. (handwiki.org)
  • Noonan syndrome ( NS ) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (handwiki.org)
  • A number of genetic mutations can result in Noonan syndrome. (handwiki.org)
  • [3] [1] Noonan syndrome is a type of RASopathy , the underlying mechanism for which involves attenuation of the RAS/MAPK cell signaling pathway. (handwiki.org)
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (handwiki.org)
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (handwiki.org)
  • The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (handwiki.org)
  • The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome. (handwiki.org)
  • Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. (handwiki.org)
  • In the eyes, hypertelorism (widely set eyes) is a defining characteristic, present in 95% of people with Noonan syndrome. (handwiki.org)
  • Development of the mouth may also be affected in Noonan syndrome. (handwiki.org)
  • Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (handwiki.org)
20202
  • 16, 2020 Charles Bonnet Syndrome (CBS) is a condition that some people get when they lose some or all their vision. (netlify.app)
  • Severe fever with thrombocytopenia syndrome (SFTS) is caused by SFTS virus (SFTSV), a new tickborne bandavirus identified in China in 2009 ( 1 ), and subsequently in South Korea in 2013 ( 2 ), Japan in 2014 ( 3 ), Vietnam in 2019 ( 4 ), and Myanmar and Pakistan in 2020 ( 5 , 6 ). (cdc.gov)
Renal1
  • Alström syndrome (AS) is a pleiotropic disorder characterized by retinal degeneration (occurs within the first year of life), childhood obesity, sensorineuronal hearing loss, Insulin resistance, type 2 diabetes, dilated cardiomyopathy and urological, renal, hepatic and pulmonary dysfunctions. (preventiongenetics.com)
Disease3
  • And no, that zero isn't a typo - approximately 4 in 5 autist 2005-07-01 Dr. Barnett's clinical interests include anterior segment disease, dry eye, scleral lenses, Sjögren's Syndrome, contact lenses, keratoconus, myopia management, multifocal contact lenses, and specialty contact lenses. (netlify.app)
  • in cerebrospinal fluid predict long-term disability of Guillain-Barré syndrome: Rodica Balasa, Belgin Petek Balci, Michael Barnett, Ann Bass, Veit U. Becker, Barnett M. Chronic obstructive pulmonary disease: a phenomenological study of patients' experiences. (netlify.app)
  • Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. (nih.gov)
Usher1
Inherited as an autosomal1
Retinitis3
  • Laurence-Moon syndrome (LMS) is a rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities. (wikipedia.org)
  • Laurence J.Z., Moon R.C.: Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development, Ophthal. (wikipedia.org)
  • We will focus on the eye condition associated with Laurence-Moon syndrome, retinitis pigmentosa. (familyconnect.org)
Diseases1
  • The discussion of male infertility focuses on genetic factors impairing spermatogenesis and includes numerical chromosomal anomalies such as Klinefelter syndrome, structural chromosomal anomalies such as Y-chromosome microdeletions, certain single gene mutations, syndromic diseases, and epigenetic mutations. (ubbcluj.ro)
Insulin2
  • These have been subdivided into insulin-resistance syndromes and fibroblast growth factor defects. (medscape.com)
  • Insulin-resistance syndromes include those with mutations in the insulin receptors (ie, leprechaunism, Rabson-Mendenhall syndrome), peroxisome proliferator-activated receptor gamma (ie, type 1 diabetes with acanthosis nigricans and hypertension), 1-acylglycerol-3-phosphate O-acyl transferase-2 or seipin (Berardinelli-Seip syndrome), lamin A/C (Dunnigan syndrome), and Alstrom syndrome gene. (medscape.com)
Symptoms1
Dystrophy1
  • Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. (springer.com)
Mutations1
Turner's3
  • Turner's syndrome occurs in approximately one out of every 2,500 live births. (encyclopedia.com)
  • Turner's syndrome leads to failure of puberty in some girls due to the lack of estrogen and progesterone production. (encyclopedia.com)
  • Turner's syndrome does not affect intelligence, although persons with the condition have poor spatial perception and mathematical aptitude, often accompanied by learning disabilities . (symptoma.com)
Klinefelter's2
Males3
Characteristics2
  • As several characteristics of Laurence-Moon are identified, a team of medical professionals will begin to piece together the puzzle and diagnose a child with Laurence-Moon. (familyconnect.org)
  • J. och välfärd för barnet på både kort och lång sikt (Monnat och syndrome": prevalence and clinical characteristics of domestic violence in. (netlify.app)
Hereditary1
  • Patients with a hereditary syndrome may wish to seek genetic counseling before having children. (msdmanuals.com)
ALMS11
Phenotype2
  • Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
  • These methods included convening MIS-C clinical experts (i.e., consultants) regarding identification of MIS-C and its distinction from other pediatric conditions, a review of available literature comparing MIS-C phenotype with that of pediatric COVID-19 and other hyperinflammatory syndromes, and retrospective application of different criteria to data from MIS-C cases previously reported to CDC. (cdc.gov)
Complex syndrome1
Severe1
  • Severe fever with thrombocytopenia syndrome virus (SFTSV) is a tickborne bandavirus mainly transmitted by Haemaphysalis longicornis ticks in East Asia, mostly in rural areas. (cdc.gov)