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Cranioschisis
Wikipedia
Churchill Livingstone. 2015. pp. 81–107. 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
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Megalocornea
Wikipedia
It is thought to have two subforms, one with autosomal inheritance and the other X-linked (Xq21.3-q22). [1] The X-linked form is more common and males generally constitute 90% of cases. [1] It may be associated with Alport syndrome , craniosynostosis , dwarfism , Down syndrome , Parry–Romberg syndrome , Marfan syndrome , mucolipidosis , Frank–ter Haar syndrome , crouzon syndrome , megalocornea-mental retardation syndrome etc. [1] [2] Clinical features [ edit ] Eyes are usually highly myopic . [3] There may be 'with the rule' astigmatism . [1] Lens may be luxated due to zonular streaching. [3] References [ edit ] ^ a b c d Scott R., Lambert; Christopher J., Lyons (2013). ... External links [ edit ] Classification D OMIM : 249300 MeSH : C562829 C562829, C562829 External resources eMedicine : article/1196299 Megalocornea - eMedicine ophthalmology; May 15, 2009; Thomas A Oetting, MD, Mark A Hendrix, MD An Infant With Enlarged Corneas - medscape v t e Congenital malformations and deformations of eyes Adnexa Eyelid Ptosis Ectropion Entropion Distichia Blepharophimosis Ablepharon Marcus Gunn phenomenon Lacrimal apparatus Congenital lacrimal duct obstruction Globe Entire eye Anophthalmia ( Cystic eyeball , Cryptophthalmos ) Microphthalmia Lens Ectopia lentis Aphakia Iris Aniridia Anterior segment Axenfeld–Rieger syndrome Cornea Keratoglobus Megalocornea Other Buphthalmos Coloboma ( Coloboma of optic nerve ) Hydrophthalmos Norrie diseaseCHRDL1, LTBP2, TINF2, NSD2, NELFA, BAZ1B, LARGE1, GTF2IRD1, POMT1, PRDM5, KIFBP, TBL2, COL1A1, GMPPB, POMT2, POMGNT1, PIEZO2, FKRP, GNPTAB, SLC2A10, POMK, ZNF469, CLIP2, CDH11, FGFR2, GTF2I, COL5A1, COL5A2, COL11A1, ELN, FBN1, FKTN, FGD1, RFC2, TEK, LETM1, LIMK1, NFIX, PIK3R1, PITX2, PPP2CA, SMAD1, COL8A2, COL8A1, ZAP70, RPS6KB2
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Telecanthus
Wikipedia
Congenital disorders such as Down syndrome , fetal alcohol syndrome , cri du chat syndrome , Klinefelter syndrome , Turner syndrome , Ehlers–Danlos syndrome , Waardenburg syndrome [3] often present with prominent epicanthal folds , and if these folds are nasal (most commonly are) they will cause telecanthus. [ citation needed ] Etymology [ edit ] Telecanthus comes from the Greek word τῆλε (tele, "far") and the Latin word canthus , meaning corner of the eyelid. ... Retrieved 12 January 2015 . ^ Tagra S, Talwar AK, Walia RL, Sidhu P (2006). "Waardenburg syndrome" . Indian J Dermatol Venereol Leprol . 72 (4): 326. doi : 10.4103/0378-6323.26718 .ACTB, ZMPSTE24, ANKRD11, KIFBP, CNTNAP2, C2CD3, KAT6B, SPECC1L, DDHD2, ANKLE2, KDM6B, B4GALT7, TLK2, SRCAP, EBP, COLEC10, AKT3, IFT52, MAFB, SEC24C, CRIPT, NRXN1, EFTUD2, PTCH2, CDK10, OFD1, SMC1A, USP9X, ZNF148, XRCC4, UFD1, HIRA, DSE, SUFU, ACTG1, UBA5, KCTD1, STAC3, JMJD1C, TAPT1, ADAMTS18, TWIST2, GPRASP2, C12orf57, CHST14, ADAT3, CCNQ, UBE3B, DOCK7, TRAF7, ALG9, RAB23, TBL1XR1, COLEC11, VPS33A, ALX4, ZSWIM6, WDR35, HECW2, ANKH, HDAC8, IFT122, HHAT, ASXL2, RNF125, NSUN2, TFAP2A, TBX1, MAP3K7, EFNB1, FUCA1, FLNB, FLNA, FOXC1, FGFR2, FGFR3, FGFR1, FGF10, FBN1, BPTF, ETFDH, ETFB, ETFA, ERF, EDNRB, SOX10, EDN3, SLC26A2, COMT, COL11A1, COL5A2, COL3A1, CHRNG, CDH11, CCND2, FOXL2, ATRX, ATP6V1B2, ARVCF, ARL3, GJA1, GJB2, GLI3, GP1BB, SNAI2, SKI, RREB1, RPS6KA3, RAF1, PTH1R, PTCH1, MASP1, MAP2K2, PITX2, PIK3R2, PIK3R1, PAX3, NRAS, NOTCH2, NEK1, MYH3, MUSK, KMT2A, MITF, MID1, KITLG, LMNA, LIG4, KRAS, KCNH1, HRAS, HNRNPU, H1-4, NPHP3-ACAD11
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Yim–ebbin Syndrome
Wikipedia
Yim–Ebbin syndrome Other names Amelia cleft lip palate hydrocephalus iris coloboma Yim–Ebbin syndrome is a congenital disorder characterized by the absence of arms, a cleft lip and palate , hydrocephalus , and an iris coloboma . [1] It was first described by Yim and Ebbin in 1982, [2] and later by Thomas and Donnai in 1994. [3] In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represented a distinct syndrome. [4] In 2000, a similar case was reported by Pierri et al. [5] It is also known as "amelia cleft lip palate hydrocephalus iris coloboma". [1] References [ edit ] ^ a b "MeSH Supplementary Concept Data" . ... "Bilateral brachial amelia with cleft lip and palate and hydrocephaly: case report 82". Syndrome Identification . 8 : 3–5. ^ Thomas, M.; Donnai, D. (1994). ... External links [ edit ] Yim–Ebbin syndrome at Online Mendelian Inheritance in Man Classification D ICD - 10 : none ICD - 9-CM : none OMIM : 601357 MeSH : C536713 This genetic disorder article is a stub .
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Zadik–barak–levin Syndrome
Wikipedia
Find sources: "Zadik–Barak–Levin syndrome" – news · newspapers · books · scholar · JSTOR ( October 2020 ) Zadik–Barak–Levin syndrome Other names Dermoid cysts, hypothyroidism, cleft palate and hypodontia Zadik–Barak–Levin syndrome (ZBLS) is a congenital disorder in humans. ... Dysmorphol. , 1983 Winter, 1(4):24–7. Zadik Barak Levin syndrome , About rare diseases , Orphanet. Further reading [ edit ] "Zadik Barak Levin syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov .
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Dyrk1a-Related Intellectual Disability Syndrome
Gene_reviews
DYRK1A- related intellectual disability syndrome is inherited in an autosomal dominant manner. ... (See ASPM Primary Microcephaly.) Angelman syndrome . Microcephaly, seizures, and absence of speech are common in Angelman syndrome; however, the microcephaly in DYRK1A -related intellectual disability syndrome appears more severe than in Angelman syndrome [Courcet et al 2012]. In addition, in DYRK1A -related intellectual disability syndrome the EEG does not have a specific pattern like that observed in Angelman syndrome [Courcet et al 2012], and the facial gestalt and behavior differ. ... Developmental regression is observed in classic Rett syndrome, but not in DYRK1A- related intellectual disability syndrome. ... Microcephaly may develop postnatally in Pitt-Hopkins syndrome. Episodic hyperventilation and/or breath-holding are not features of DYRK1A- related intellectual disability syndrome.
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Ohdo Syndrome, X-Linked
Omim
A number sign (#) is used with this entry because X-linked Ohdo syndrome is caused by mutation in the MED12 gene (300188) on chromosome Xq13. ... The authors diagnosed the patient with Ohdo blepharophimosis syndrome. Verloes et al. (2006) reported the 9-month-old maternal nephew of the patient reported by Maat-Kievit et al. (1993), who had died at age 25 years of metastatic carcinoma. ... Verloes et al. (2006) classified the disorder in these patients as a distinct blepharophimosis-mental retardation syndrome, MKB (Maat-Kievit-Brunner) type, and suggested X-linked inheritance. They noted that whereas the MKB phenotype in infancy resembled that of the SBBYS variant of Ohdo syndrome (603736), the phenotype in adulthood was clearly distinct, with coarse facial features, thick alae nasi, triangular face, and a different gestalt from that in the SBBYS type. ... By analysis of an additional cohort of 9 simplex male patients with Ohdo syndrome, they identified another MED12 missense mutation (300188.0005) in 1 patient.
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Shrunken Pore Syndrome
Wikipedia
Pores in one of the structures of the glomerular filtration barrier Shrunken pore syndrome (SPS) is a kidney disorder described in 2015 in which the pores in the glomerular filtration barrier are hypothesized to have shrunken so that the glomerular filtration rate (GFR) of 5–30 kDa proteins , for example cystatin C , is selectively reduced compared to that of small molecules (less than 5 kDa) such as water and creatinine . [1] The syndrome is associated with premature death. [1] [2] SPS has been identified in children. [1] Contents 1 Mechanism 2 Diagnosis 3 Prognosis 4 References Mechanism [ edit ] Glomerulus and Bowman's capsule. ... The figure compares the glomerular barrier in kidneys with and without shrunken pore syndrome It has been speculated that SPS is both caused by, and exacerbates, cardiovascular disease . [1] It was stated in 2014 that the kidneys have a role in maintaining the equilibrium between production and catabolism of most proteins between about 5 and 30 kDa in molecular mass and that failure to do so results in serious disease and strongly increased mortality, when the kidney disorder shrunken pore syndrome was identified. [1] [2] Proteins less than 30 kDa comprise about 36% of the total human proteome . [1] A hypothesis concerning the pathophysiology of SPS is that several 5–30 kDa proteins with signalling functions, for example cytokines , are increased in concentration and promote development of serious disorders like cancer and cardiovascular disorders. [1] Diagnosis [ edit ] An eGFR cystatin C /eGFR creatinine -ratio <0.60, or <0.70, in the absence of non-renal influences on eGFR cystatin C or eGFR creatinine , identifies a condition as SPS. [1] Optimal classification and stratification of chronic kidney disease requires not only analysis of GFR (estimated or measured) and albuminuria , but also determination of the eGFR cystatin C /eGFR creatinine -ratio to assess the presence of SPS. [1] Prognosis [ edit ] The mortality of SPS is higher than that of cancer , diabetes mellitus , cardiovascular disease or chronic kidney disease . [1] References [ edit ] ^ a b c d e f g h i j Grubb A (Sep 2020). "Shrunken pore syndrome – a common kidney disorder with high mortality. ... "eGFR, cystatin C and creatinine in shrunken pore syndrome". Clinica Chimica Acta (Review). 498 : 1–5. doi : 10.1016/j.cca.2019.08.001 .
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Joubert Syndrome 23
Omim
A number sign (#) is used with this entry because of evidence that Joubert syndrome-23 (JBTS23) is caused by homozygous or compound heterozygous mutation in the KIAA0586 gene (610178) on chromosome 14q23. Description Joubert syndrome-23 is an autosomal recessive neurodevelopmental disorder characterized by delayed development, abnormal eye movements, and abnormal breathing pattern associated with a characteristic hindbrain malformation apparent on brain imaging and known as the 'molar tooth sign.' Compared to other forms of Joubert syndrome, the phenotype is relatively mild, and other organ systems are generally not affected (summary by Bachmann-Gagescu et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Clinical Features Bachmann-Gagescu et al. (2015) reported 9 patients with Joubert syndrome-23. ... Bachmann-Gagescu et al. (2015) concluded that the phenotype was at the mild end of the disease spectrum observed in Joubert syndrome. Inheritance The transmission pattern of JBTS23 in the families reported by Bachmann-Gagescu et al. (2015) was consistent with autosomal recessive inheritance.
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Fitzsimmons–guilbert Syndrome
Wikipedia
Fitzsimmons–Guilbert syndrome Other names Paraplegia-brachydactyly-cone-shaped epiphysis syndrome Fitzsimmons–Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive spastic paraplegia , skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses , abnormal metaphyseal – phalangeal pattern profile, sternal anomaly ( pectus carinatum or excavatum), dysarthria , and mild intellectual deficit. [1] Contents 1 Pathophysiology 2 Diagnosis 3 Treatment 4 History 5 References 6 External links Pathophysiology [ edit ] With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible. [ citation needed ] Diagnosis [ edit ] This section is empty. ... "Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome" . J Med Genet . 31 (3): 251–2. doi : 10.1136/jmg.31.3.251 . ... "Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?".
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Transient Hypogammaglobulinemia Of Infancy
Wikipedia
External links [ edit ] Classification D ICD - 10 : D80.7 ICD - 9-CM : 279.09 External resources eMedicine : ped/2280 v t e Lymphoid and complement disorders causing immunodeficiency Primary Antibody / humoral ( B ) Hypogammaglobulinemia X-linked agammaglobulinemia Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia IgA deficiency IgG deficiency IgM deficiency Hyper IgM syndrome ( 1 2 3 4 5 ) Wiskott–Aldrich syndrome Hyper-IgE syndrome Other Common variable immunodeficiency ICF syndrome T cell deficiency ( T ) thymic hypoplasia : hypoparathyroid ( Di George's syndrome ) euparathyroid ( Nezelof syndrome Ataxia–telangiectasia ) peripheral: Purine nucleoside phosphorylase deficiency Hyper IgM syndrome ( 1 ) Severe combined (B+T) x-linked: X-SCID autosomal: Adenosine deaminase deficiency Omenn syndrome ZAP70 deficiency Bare lymphocyte syndrome Acquired HIV/AIDS Leukopenia : Lymphocytopenia Idiopathic CD4+ lymphocytopenia Complement deficiency C1-inhibitor ( Angioedema / Hereditary angioedema ) Complement 2 deficiency / Complement 4 deficiency MBL deficiency Properdin deficiency Complement 3 deficiency Terminal complement pathway deficiency Paroxysmal nocturnal hemoglobinuria Complement receptor deficiency This cutaneous condition article is a stub .
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Genetics And Abortion
Wikipedia
When taking this into account, it is believed that approximately 50 percent of fetuses with Down Syndrome are aborted. [10] Response by Down syndrome advocates [ edit ] Fetuses with Down syndrome are disproportionately affected by genetic pre-screening, as current statistics indicate that 50% of fetuses with Down syndrome are aborted. [11] Down Syndrome activists have responded to this disparity by testifying to Congress and raising awareness regarding links between Down Syndrome and Alzheimer’s research. ... Although most individuals with Down syndrome have these plaques by age 40, not all people with Down syndrome develop disease. Therefore, the Down syndrome population offers a unique quality to researchers to investigate why some individuals with Down syndrome develop Alzheimer’s and others do not. [13] Above all, Down syndrome advocates want parents to make an informed choice before terminating a Down syndrome pregnancy. ... Telegraph . Retrieved 2016-09-30 . ^ "Down syndrome" . Mayo Clinic. 2014-04-19 . Retrieved 2016-09-30 . ^ "Down syndrome, prenatal testing, and abortion–it's complicated" . ... Retrieved 2020-04-06 . ^ "Why is Research for People with Down Syndrome Important?" . Global Down Syndrome Foundation . 2012-02-17 .
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Gonadotropin-Releasing Hormone Insensitivity
Wikipedia
Causes [ edit ] Congenital Causes Genetic Mutations Kallmann syndrome ANOS1 (formerly KAL1), X-linked recessive KS SOX10 (SRY-box 10 gene), autosomal dominant KS with variable penetrance IL17RD , autosomal dominant KS with variable penetrance SEMA3A , autosomal dominant KS with variable penetrance FEZF1 , autosomal recessive KS IL17RD , autosomal dominant KS with variable penetrance Digenic and Oligogenic Mutations A heterozygous FGFR1 mutation and heterozygous deletion in the NSMF gene in the anosmic pedigree A compound heterozygous GNRHR mutation and heterozygous FGFR1 mutation in the normosmic pedigree GnRH deficiency associated with mental retardation / obesity Congenital malformations often associated with craniofacial anomalies Laurence-Moon-Biedl syndrome Prader-Willi syndrome Acquired Causes Benign tumors and cysts Craniopharyngiomas Germinomas , meningiomas , gliomas , astrocytomas Metastatic tumors (breast, lung, prostate) Chronic systemic disease Malnutrition , anorexia nervosa , bulimia Hypothyroidism , hyperprolactinemia , diabetes mellitus , Cushing's disease Post-androgen abuse Infiltrative diseases Hemochromatosis Granulomatous diseases Histiocytosis Head trauma Pituitary apoplexy Drugs - marijuana , opioids , anabolic steroids Pathophysiology [ edit ] The genetic mechanisms of gonadotropin-releasing hormone (GnRH) insensitivity involve mutations in at least twenty-four genes regulating GnRH neuronal migration, secretion, and activity. ... A population-based, epidemiological study from Finland showed a minimal prevalence estimate of the Kallman syndrome (KS) form of Gonadotropin-releasing hormone (GnRH) insensitivity to be 1:48,000 with a clear difference between males (1:30,000) and females (1:125,000). [5] Research [ edit ] The research of GnRH deficiency has been long studied over the past five decades. ... Further theses studies demonstrated that the absence, decreased frequency, or decreased amplitude of pulsatile GnRH release results in the clinical syndrome of hypogonadotropic hypogonadism (HH). ... "Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland" . Orphanet Journal of Rare Diseases . 6 : 41. doi : 10.1186/1750-1172-6-41 . ... External links [ edit ] Classification D External resources eMedicine : article/255152 v t e Pituitary disease Hyperpituitarism Anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion Posterior SIADH General Nelson's syndrome Hypophysitis Hypopituitarism Anterior Kallmann syndrome Growth hormone deficiency Hypoprolactinemia ACTH deficiency / Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity Posterior Neurogenic diabetes insipidus General Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis Pituitary adenoma v t e Cell surface receptor deficiencies G protein-coupled receptor (including hormone ) Class A TSHR ( Congenital hypothyroidism 1 ) LHCGR ( Luteinizing hormone insensitivity , Leydig cell hypoplasia , Male-limited precocious puberty ) FSHR ( Follicle-stimulating hormone insensitivity , XX gonadal dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome , Waardenburg syndrome 4a , Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes insipidus 1 ) PTGER2 ( Aspirin-induced asthma ) Class B PTH1R ( Jansen's metaphyseal chondrodysplasia ) Class C CASR ( Familial hypocalciuric hypercalcemia ) Class F FZD4 ( Familial exudative vitreoretinopathy 1 ) Enzyme-linked receptor (including growth factor ) RTK ROR2 ( Robinow syndrome ) FGFR1 ( Pfeiffer syndrome , KAL2 Kallmann syndrome ) FGFR2 ( Apert syndrome , Antley–Bixler syndrome , Pfeiffer syndrome , Crouzon syndrome , Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia , Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis ) KIT ( KIT Piebaldism , Gastrointestinal stromal tumor ) STPK AMHR2 ( Persistent Müllerian duct syndrome II ) TGF beta receptors : Endoglin / Alk-1 / SMAD4 ( Hereditary hemorrhagic telangiectasia ) TGFBR1 / TGFBR2 ( Loeys–Dietz syndrome ) GC GUCY2D ( Leber's congenital amaurosis 1 ) JAK-STAT Type I cytokine receptor : GH ( Laron syndrome ) CSF2RA ( Surfactant metabolism dysfunction 4 ) MPL ( Congenital amegakaryocytic thrombocytopenia ) TNF receptor TNFRSF1A ( TNF receptor associated periodic syndrome ) TNFRSF13B ( Selective immunoglobulin A deficiency 2 ) TNFRSF5 ( Hyper-IgM syndrome type 3 ) TNFRSF13C ( CVID4 ) TNFRSF13B ( CVID2 ) TNFRSF6 ( Autoimmune lymphoproliferative syndrome 1A ) Lipid receptor LRP : LRP2 ( Donnai–Barrow syndrome ) LRP4 ( Cenani–Lenz syndactylism ) LRP5 ( Worth syndrome , Familial exudative vitreoretinopathy 4 , Osteopetrosis 1 ) LDLR ( LDLR Familial hypercholesterolemia ) Other/ungrouped Immunoglobulin superfamily : AGM3, 6 Integrin : LAD1 Glanzmann's thrombasthenia Junctional epidermolysis bullosa with pyloric atresia EDAR ( EDAR hypohidrotic ectodermal dysplasia ) PTCH1 ( Nevoid basal-cell carcinoma syndrome ) BMPR1A ( BMPR1A juvenile polyposis syndrome ) IL2RG ( X-linked severe combined immunodeficiency ) See also cell surface receptors
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Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Omim
Description Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to be comprised of 4 distinct entities with overlapping features: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. ... Except for the greater severity in females, the renal disease was indistinguishable from that of X-linked Alport syndrome (301050). Likewise, the high frequency sensorineural hearing loss was similar to that in Alport syndrome. ... The inclusions in polymorphonuclear leukocytes were similar to those found in patients with Fechtner syndrome. Greinacher and Mueller-Eckhardt (1990) referred to the Sebastian platelet syndrome as an autosomal dominant disorder characterized by the same hematologic changes as those in the Fechtner syndrome, but without the manifestations of Alport syndrome. ... Toren et al. (2000) mapped Epstein syndrome to the same region of chromosome 22q, suggesting that it is allelic to Fechtner syndrome. ... History M'Rad et al. (1992) reported studies of 31 families with Alport syndrome. One family had a severe form of the disease with deafness and end-stage renal disease (ESRD) at the age of 14 but without ocular signs of Alport syndrome.
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Taussig–bing Syndrome
Wikipedia
Unsourced material may be challenged and removed. Find sources: "Taussig–Bing syndrome" – news · newspapers · books · scholar · JSTOR ( May 2018 ) ( Learn how and when to remove this template message ) Taussig–Bing syndrome Specialty Cardiac surgery Taussig–Bing syndrome is a cyanotic congenital heart defect [1] in which the patient has both double outlet right ventricle (DORV) and subpulmonic ventricular septal defect (VSD). [2] In DORV, instead of the normal situation where blood from the left ventricle (LV) flows out to the aorta and blood from the right ventricle (RV) flows out to the pulmonary artery , both aorta and pulmonary artery are connected to the RV, and the only path for blood from the LV is across the VSD. ... External links [ edit ] Classification D ICD - 10 : Q20.1 ICD - 9-CM : 745.11 OMIM : 217095 MeSH : D004310 DiseasesDB : 32215 External resources eMedicine : ped/2509 ped/2508 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 This article about a medical condition affecting the circulatory system is a stub .
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Stewart–treves Syndrome
Wikipedia
Stewart–Treves syndrome Other names Cutaneous angiosarcoma Stewart–Treves syndrome , refers to a lymphangiosarcoma , a rare complication that forms as a result of chronic , long-standing lymphedema . ... ISBN 978-0-7216-2921-6 . ^ a b c Sharma, A; Schwartz, RA (June 2012). "Stewart-Treves syndrome: Pathogenesis and management". ... "Images in clinical medicine. The Stewart-Treves syndrome". N. Engl. J. Med . 359 (9): 950. doi : 10.1056/NEJMicm071344 . PMID 18753651 . ^ a b Wierzbicka-Hainaut, E; Guillet, G (December 2010). "[Stewart-Treves syndrome (angiosarcoma on lyphoedema): A rare complication of lymphoedema]". ... PMID 20970956 . ^ Heitmann, C; Ingianni, G (January 2000). "Stewart-Treves syndrome: lymphangiosarcoma following mastectomy".
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Congenital Myasthenic Syndrome
Medlineplus
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. ... Frequency The prevalence of congenital myasthenic syndrome is unknown. At least 600 families with affected individuals have been described in the scientific literature. Causes Mutations in many genes can cause congenital myasthenic syndrome. Mutations in the CHRNE gene are responsible for more than half of all cases. ... The respiratory problems in congenital myasthenic syndrome result from impaired movement of the muscles of the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm ). ... Some people with congenital myasthenic syndrome do not have an identified mutation in any of the genes known to be associated with this condition.
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Digeorge Syndrome/velocardiofacial Syndrome Complex 2
Omim
The DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430) may present many clinical problems, including cardiac defects, hypoparathyroidism, T-cell immunodeficiency, and facial dysmorphism. ... By comparison with data previously published on patients with DiGeorge/velocardiofacial syndrome associated with 10p monosomy, Lichtner et al. (2000) concluded that this is a contiguous gene syndrome. ... The NEBL gene was not deleted in cell lines derived from 2 patients with the more distal deletion of 10p14-p13, which is associated with HDR syndrome.
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Hyperviscosity Syndrome
Wikipedia
Hyperviscosity syndrome Specialty Hematology Hyperviscosity syndrome is a group of symptoms triggered by an increase in the viscosity of the blood . ... This correlation may be useful for anticipating the need for repeat plasmapheresis. [6] See also [ edit ] Bing-Neel syndrome Waldenström macroglobulinemia References [ edit ] ^ Kwaan, Hau; Bongu, Anurekha (1999). "The Hyperviscosity Syndromes" . Seminars in Thrombosis and Hemostasis . 25 (2): 199–208. doi : 10.1055/s-2007-994921 . PMID 10357087 . ^ Hyperviscosity Syndrome Workup at eMedicine ^ a b Bekelman, J; Jackson, N; Donehower, R (2006). ... Philadelphia: Saunders Elsevier. [ page needed ] ^ Gertz MD, Morie (May 1, 1995). "Hyperviscosity Syndrome". Sage . 10 (3): 128–141. doi : 10.1177/088506669501000304 .
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Skeeter Syndrome
Wikipedia
Severe allergic inflammatory reaction from mosquito bites Skeeter syndrome Culex mosquito on a human finger Skeeter syndrome (papular urticaria ) is a localized allergic reaction to mosquito bites , [1] consisting of inflammation and sometimes fever . ... Clinical examination alone cannot distinguish between a response caused by infection , such as cellulitis , and skeeter syndrome. However, skeeter syndrome usually progresses over the course of hours versus cellulitis, which typically evolves over the course of several days. ... Since IgE and IgG are key players in mosquito allergy, diagnosis can be confirmed by an immunosorbent assay measuring IgE and IgG to mosquito saliva antigens. [ citation needed ] Differential diagnosis [ edit ] The Skeeter syndrome should not be confused with another type of reactivity to mosquito bites, severe mosquito bite allergy (SMBA). ... The reaction is often accompanied by relatively severe systemic symptoms such as fever and malaise ; [6] enlarged lymph nodes, liver, and/or spleen; liver dysfunction; hematuria; and proteinuria. [5] Treatment [ edit ] Taking oral cetirizine regularly has been known to help those who suffer from skeeter syndrome. [ citation needed ] References [ edit ] ^ " ' Skeeter Syndrome' Describes Local Allergic Reactions to Mosquito Bites" . ... PMID 25758116 . ^ Simons, F.Estelle R.; Peng, Zhikang (1999). "Skeeter syndrome". Journal of Allergy and Clinical Immunology . 104 (3): 705–7. doi : 10.1016/S0091-6749(99)70348-9 .