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Ectromelia
Wikipedia
Ectromelia Specialty Orthopedic Ectromelia is a congenital condition where long bones are missing or underdeveloped. [1] Examples include: Amelia Hemimelia Phocomelia Sirenomelia References [ edit ] ^ " ectromelia " at Dorland's Medical Dictionary External links [ edit ] Classification D ICD - 10 : Q73.8 ICD - 9-CM : 755.20 , 755.30 , 755.4 MeSH : D004480 SNOMED CT : 43036001 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 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome This article about a disease of musculoskeletal and connective tissue is a stub .
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Fountain Syndrome
Wikipedia
Fountain syndrome Other names Deafness-skeletal dysplasia-coarse face with full lips syndrome, Deafness-skeletal dysplasia-lip granuloma syndrome Fountain syndrome has an autosomal recessive pattern of inheritance . ... PMID 3565469 . Dunkle Mary (1996). "Fountain Syndrome" . NORD . Retrieved 26 April 2012 . "Fountain syndrome" . Ailments.com. 2000 . Retrieved 29 April 2012 . "Children's Health:Fountain syndrome" . WebMD. 2011 . Retrieved 30 April 2012 . External links [ edit ] Classification D ICD - 10 : Q87.8 OMIM : 229120 MeSH : C537270 External resources Orphanet : 3219 Online Mendelian Inheritance in Man (OMIM): 229120 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
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Multiple Abnormalities
Wikipedia
References [ edit ] External links [ edit ] Classification D ICD - 10 : Q87 ICD - 9-CM : 759.7 MeSH : D000015 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome This genetic disorder article is a stub .PTEN, FGFR2, CTNNB1, LEFTY2, POLD1, HAAO, GPER1, GSK3B, SETBP1, CECR, NRXN1, CHUK, KYNU, AFF4, NADSYN1, TP63, ARNTL, COQ4, POGZ, PHF8, TMEM216, MYO15A, IQCE, SATB2, MED13L, ADNP, TGDS, RBFOX2, GMPPB, KAT6B, FOXP1, RAB3GAP2, ANKRD11, VAX2, NIPBL, NMNAT2, AUTS2, VPS33B, ACTB, CHEK2, RAB3GAP1, MED12, SMC1A, CUL3, PPM1D, CASK, CDK13, NRP2, SYNGAP1, PIGQ, EFTUD2, RECQL4, ECEL1, ZEB2, ABCC9, MORC2, HNRNPR, SF3B4, STAG1, TUBB3, ZBTB18, CTCF, RAI1, ZMYND11, SRCAP, WDR45, PTRH2, PUF60, WAC, DLL4, RAB23, TMCO1, WDR26, ASXL3, CLPB, PHF6, COL27A1, UBE3B, TMEM67, PKDCC, NDUFAF2, TWIST2, METTL23, CANT1, SPNS2, AMER1, B3GALNT2, SPRED1, LCA5, ASXL1, TUBB, ASPM, CHAMP1, KANSL1, SOX2-OT, KIF7, DIPK1A, C10orf105, TMEM151B, BBS10, THOC6, GNPTAB, AARS2, MAGEL2, AAAS, SAMD9, BCOR, SETD5, CHD7, TRMU, PACS1, HHAT, HDAC8, ZC4H2, ARID1B, CHD8, CPLANE1, ZSWIM6, GRHL3, TRPV4, ALX4, FKBP10, PIEZO2, ZNF335, CDH23, XYLT2, IRF2BPL, NSD1, BCL11B, RBM10, KDM6A, KMT2D, SHOC2, ECHS1, EFNB1, EP300, ETV6, BPTF, FBN1, FGD1, FOXG1, FLT4, GAA, GJA1, GJA8, GLE1, GLI2, GNAS, GPD1, GUCY2D, HADHA, HIVEP2, HNRNPK, HRAS, RBPJ, ITPR1, JAK1, ANOS1, KCNH2, KRT12, DYRK1A, DVL1, DOCK1, CDC42, ACTG1, ACTG2, ACVR1, ACAN, ATP1A3, ATP6V1B1, ATRX, KIF1A, BMP7, BRAF, CACNA1A, CCND2, CHD4, DNMT3A, CHRNG, CLTC, COL1A2, COL2A1, COL11A1, COL11A2, CREBBP, CSF1R, CYP21A2, DDX3X, DHCR7, DNAH5, LRP5, SMAD2, MAN2B1, SOX11, RPL5, RPS6KA3, MSMO1, SCN5A, SKI, SLC16A2, SMARCA4, SMARCB1, SMARCE1, SON, SOS1, SOX2, STAT3, RARB, TBCE, TFAP2A, NR2F2, THRA, TRIO, TRPS1, TTN, USH2A, ACTC1, VRK1, VWF, TUBA1A, RIT1, RAF1, MEF2C, OTX2, KMT2A, MN1, MTIF2, MYO7A, NEB, NDUFB3, NF1, NFIA, NHS, NODAL, NOTCH1, NTRK1, PAX2, PYCR1, CHMP1A, PDHA1, ATP8B1, PIK3CA, PIK3R2, PKD2, PLCB4, PLP1, PPP3CA, PRF1, PRPS1, PTPN11, TTN-AS1
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Hemimelia
Wikipedia
Hemimelia Other names Longitudinal meromelia Specialty Medical genetics Hemimelia comprises Fibular hemimelia , Congenital longitudinal deficiency of the fibula or fibular longitudinal meromelia [1] Tibial hemimelia , Congenital longitudinal deficiency of the tibia, Congenital aplasia and dysplasia of the tibia with intact fibula, Congenital longitudinal deficiency of the tibia or tibial longitudinal meromelia [2] Radial Hemimelia , Congenital longitudinal deficiency of the radius, radial clubhand, radial longitudinal meromelia or radial ray agenesis [3] Ulnar hemimelia , Congenital longitudinal deficiency of the ulna, ulnar clubhand or ulnar longitudinal meromelia [4] References [ edit ] ^ Orphanet 93323 ^ Orphanet 93322 ^ Orphanet 93321 ^ Orphanet 93320 External links [ edit ] Classification D ICD - 10 : Q71.8 Q72.8 Q73.8 External resources Orphanet : 2130 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 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
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Atrichia With Papular Lesions
Wikipedia
External links [ edit ] Classification D ICD - 10 : L65.8 OMIM : 209500 MeSH : C565924 External resources Orphanet : 86819 v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) This Genodermatoses article is a stub .HR, ODC1, RARA, PML, ZBTB16, PRAM1, FLT3, NPM1, DAPK2, TRIB3, AS3MT, PPARG, ADCY9, SQSTM1, VDR, VAV1, ATG5, TWIST1, TSHR, TP73, TOP2B, CCNA1, KHDRBS1, ZMPSTE24, AGPAT2, TACR1, RAB40B, PEG10, NUP62, DCTN4, LEF1, KDM3B, LMNB2, PRRT2, NEAT1, MIR181A2, MIR17HG, TRBV20OR9-2, MAPK3, RXRA, FGFR1, AKT1, ANXA5, APRT, FAS, CEBPB, CEBPE, DAP, F2, F2RL1, F3, PTK2B, FANCB, FGF13, KAT2A, AGL, GTF2H1, HLA-DRB1, HOXB2, ITGAM, LMNA, MATN1, MFAP1, MYC, NCAM1, PRF1, PRKAR1A, PRKCA, PRKCB, BCRP3
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Zimmermann–laband Syndrome
Wikipedia
Zimmermann–Laband syndrome Other names Laband–Zimmermann syndrome , [1] and Laband's syndrome [2] Zimmerman–Laband syndrome has an autosomal dominant pattern of inheritance Specialty Medical genetics Zimmermann–Laband syndrome ( ZLS ), [3] is an extremely rare [4] autosomal dominant [5] congenital disorder . ... ISBN 978-1-4160-2999-1 . ^ a b Laband Syndrome Archived September 27, 2007, at the Wayback Machine ^ Zimmermann–Laband Syndrome – What does ZLS stand for? ... "A case of Zimmermann–Laband syndrome with supernumerary teeth". Journal of Periodontology . 74 (8): 1225–30. doi : 10.1902/jop.2003.74.8.1225 . ... ^ Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L1 (2016) Temple-Baraitser Syndrome and Zimmermann–Laband Syndrome: one clinical entity? BMC Med Genet. 17(1):42. doi: 10.1186/s12881-016-0304-4 External links [ edit ] Classification D OMIM : 135500 MeSH : C536725 External resources Orphanet : 3473 v t e Congenital malformations and deformations of skin appendages Nail disease Anonychia Leukonychia Pachyonychia congenita / Onychauxis Koilonychia Hair disease hypotrichosis /abnormalities: keratin disease Monilethrix IBIDS syndrome Sabinas brittle hair syndrome Pili annulati Pili torti Uncombable hair syndrome Björnstad syndrome Giant axonal neuropathy with curly hair hypertrichosis : Zimmermann–Laband syndrome v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
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Acrocephalosyndactylia
Wikipedia
You can help by adding to it . ( August 2017 ) Diagnosis [ edit ] Classification [ edit ] It has several different types: type 1 – Apert syndrome [3] [4] : 577 type 2 – Crouzon syndrome [4] : 577 [5] type 3 – Saethre–Chotzen syndrome [6] type 5 – Pfeiffer syndrome [7] [8] A related term, "acrocephalopolysyndactyly" (ACPS), refers to the inclusion of polydactyly to the presentation. It also has multiple types: type 1 – Noack syndrome; now classified with Pfeiffer syndrome [8] type 2 – Carpenter syndrome [9] type 3 – Sakati–Nyhan–Tisdale syndrome [10] type 4 – Goodman syndrome; [11] [12] now classified with Carpenter syndrome [13] type 5 – Pfeiffer syndrome It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned. [14] Treatment [ edit ] This section is empty. ... ISBN 0-7216-2921-0 . ^ Online Mendelian Inheritance in Man (OMIM): Apert syndrome - 101200 ^ Diseases Database (DDB): Saethre-Chotzen syndrome ^ Diseases Database (DDB): Pfeiffer syndrome ^ a b Online Mendelian Inheritance in Man (OMIM): Pfeiffer syndrome - 101600 ^ Online Mendelian Inheritance in Man (OMIM): Carpenter syndrome - 201000 ^ Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type III - 101120 ^ Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type IV - 201020 ^ Goodman RM, Sternberg M, Shem-Tov Y, Katznelson MB, Hertz M, Rotem Y (March 1979). ... "Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes". ... External links [ edit ] Classification D ICD - 10 : Q87.0 ICD - 9-CM : 755.55 MeSH : D000168 External resources Orphanet : 946 Acrocephalosyndactylia at the US National Library of Medicine Medical Subject Headings (MeSH) v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome This genetic disorder article is a stub .
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Congenital Limb Deformities
Wikipedia
References [ edit ] External links [ edit ] Classification D MeSH : D017880 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 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome This article about a congenital malformation is a stub .HOXD13, TP63, TBX3, SALL1, GPC6, TGFB2, HOXA11, HOXD11, FGFR2, IRF6, HOXD12, SALL4, HAPLN1, MIR17HG, COL11A2, CHUK, CACNA1C, BMP4, TBX5, RPE65, UVRAG, CKAP4, WNT7A, BHLHA9, GDF5, ZRS, PITX1, ZSWIM6, GLI3, MSX2, CRK, MACROD2, LMBR1, CD6, EIF4A3, KIF16B, SHFM3, CHST11, NIPBL, CHSY1, DHCR7, DLX6, NKX2-5, LRP4, HAND2, EVC, FBLN1, ZFP37, YWHAE, FGFR4, TWIST1, HOXA13, HOXC@, HOXD@, HOXD10, HTC2, BMPR1B, PCSK5, S1PR2
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Syndromes Affecting The Heart
Wikipedia
A syndrome can affect one or more of body systems. Different syndromes affect different groups of organs. ... Liver ( jaundice , pruritus , hepatosplenomegaly , acholia , xanthoma ) Andersen–Tawil syndrome This condition affects the QT interval (in blue) Antley–Bixler syndrome Barth syndrome Brugada syndrome Cantú syndrome genetic ( Chromosome 12 , autosomal dominant ) Cardiac syndrome X Cardiorenal syndrome Kidney Cat eye syndrome CHARGE syndrome Coffin–Lowry syndrome genetic ( RPS6KA3 gene mutation, Chromosome X ) Costello syndrome Down syndrome genetic ( Chromosome 21 ) Dressler syndrome autoimmune inflammatory reaction secondary to MI . Edwards syndrome genetic ( Chromosome 18 ) Eisenmenger's syndrome Ellis–van Creveld syndrome Emanuel syndrome HEC syndrome Heyde's syndrome Ho–Kaufman–Mcalister syndrome Holt–Oram syndrome ASD , and a first degree heart block. Hypoplastic left heart syndrome Jacobsen syndrome genetic ( Chromosome 11q deletion) Jaffe–Campanacci syndrome Jervell and Lange-Nielsen syndrome genetic ( autosomal recessive ) a type of long QT syndrome Kabuki syndrome Kearns–Sayre syndrome Long QT syndrome Lutembacher's syndrome Malpuech facial clefting syndrome Marden–Walker syndrome Marfan syndrome McKusick–Kaufman syndrome McLeod syndrome Noonan syndrome Noonan syndrome with multiple lentigines Ortner's syndrome Bouveret Hoffmann syndrome another name for " Paroxysmal tachycardia " Patau syndrome genetic ( Chromosome 13 ) Pre-excitation syndrome Romano–Ward syndrome Scimitar syndrome Shone's syndrome Short QT syndrome Sick sinus syndrome Taussig–Bing syndrome double outlet right ventricle (DORV) and subpulmonic VSD . a cyanotic congenital heart defect Timothy syndrome Townes–Brocks syndrome Triploid syndrome Turner syndrome VACTERL syndrome Wellens' syndrome Williams syndrome Wolff–Parkinson–White syndrome A Delta wave often seen in an affected individual Zunich–Kaye syndrome Lown–Ganong–Levine syndrome References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS.
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Sakati–nyhan–tisdale Syndrome
Wikipedia
Sakati–Nyhan–Tisdale syndrome Other names Acrocephalopolysyndactyly type III This condition is inherited in an autosomal dominant manner Specialty Medical genetics Sakati–Nyhan–Tisdale syndrome , [1] is a rare genetic disorder that has been associated with abnormalities in the bones of the legs, congenital heart defects and craniofacial defects. ... It was characterized in 1971. [7] [8] References [ edit ] ^ a b c d "Sakati–Nyhan–Tisdale Syndrome Information" . Ole Daniel Enersen. ^ a b "Sakati Syndrome Information Guide" . WebMD . ^ a b "Sakati Syndrome Information" . British Columbia Ministry of Health . ^ Patrick Jucker-Kupper. ... Ole Daniel Enersen. ^ Sakati N, Nyhan WL, Tisdale WK (1971). "A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs". ... External links [ edit ] Classification D OMIM : 101120 MeSH : C537227 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
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Adducted Thumb Syndrome
Wikipedia
Rare genetic disease affecting palate, thumbs, and upper limbs Adducted thumb syndrome Other names Christian syndrome, craniostenosis arthrogryposis cleft palate Adducted thumb syndrome has a lysosomal recessive pattern of inheritance Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. ... "Adducted thumb syndromes". Clin. Genet . 8 (3): 190–8. doi : 10.1111/j.1399-0004.1975.tb01493.x . ... ISBN 978-1-4160-2999-1 . ^ Kunze J, Park W, Hansen KH, Hanefeld F (1983). "Adducted thumb syndrome. Report of a new case and a diagnostic approach". ... External links [ edit ] Whonamedit.com entry on Christian syndrome Classification D OMIM : 201550 DiseasesDB : 31689 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
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Nail–patella Syndrome
Wikipedia
Nail–patella syndrome Other names NPS Nail of a patient with nail–patella syndrome Specialty Medical genetics Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. ... It is also referred to as iliac horn syndrome , hereditary onychoosteodysplasia ( HOOD syndrome ), Fong disease or Turner–Kieser syndrome . [2] Diagnosis of NPS can be made at birth, but is common for it to remain undiagnosed for several generations. ... "Nail-Patella Syndrome" . Consultant 360 . 47 (8). ^ a b Sweeney E, Fryer A (March 2003). "Nail patella syndrome: a review of the phenotype aided by developmental biology" . ... External links [ edit ] GeneReview/NCBI/NIH/UW entry on nail–patella syndrome Classification D ICD - 10 : Q87.2 ( ILDS Q87.230) ICD - 9-CM : 756.89 OMIM : 161200 MeSH : D009261 DiseasesDB : 8773 SNOMED CT : 22199006 External resources eMedicine : ped/1546 derm/813 Orphanet : 2614 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions )
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Timothy Syndrome
Wikipedia
Timothy syndrome often ends in early childhood death. ... There are two recognized types of Timothy syndrome, classical (type-1) and atypical (type-2). ... Both classical and atypical Timothy syndromes are caused by mutations in CACNA1C . ... Long QT syndrome sometimes presents itself as a complication due to surgery to correct syndactyly. ... External links [ edit ] Classification D OMIM : 601005 MeSH : C536962 C536962, C536962 DiseasesDB : 34006 GeneReview/NCBI/NIH/UW entry on Timothy Syndrome v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome v t e Diseases of ion channels Calcium channel Voltage-gated CACNA1A Familial hemiplegic migraine 1 Episodic ataxia 2 Spinocerebellar ataxia type-6 CACNA1C Timothy syndrome Brugada syndrome 3 Long QT syndrome 8 CACNA1F Ocular albinism 2 CSNB2A CACNA1S Hypokalemic periodic paralysis 1 Thyrotoxic periodic paralysis 1 CACNB2 Brugada syndrome 4 Ligand gated RYR1 Malignant hyperthermia Central core disease RYR2 CPVT1 ARVD2 Sodium channel Voltage-gated SCN1A Familial hemiplegic migraine 3 GEFS+ 2 Febrile seizure 3A SCN1B Brugada syndrome 6 GEFS+ 1 SCN4A Hypokalemic periodic paralysis 2 Hyperkalemic periodic paralysis Paramyotonia congenita Potassium-aggravated myotonia SCN4B Long QT syndrome 10 SCN5A Brugada syndrome 1 Long QT syndrome 3 SCN9A Erythromelalgia Febrile seizure 3B Paroxysmal extreme pain disorder Congenital insensitivity to pain Constitutively active SCNN1B / SCNN1G Liddle's syndrome SCNN1A / SCNN1B / SCNN1G Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated KCNA1 Episodic ataxia 1 KCNA5 Familial atrial fibrillation 7 KCNC3 Spinocerebellar ataxia type-13 KCNE1 Jervell and Lange-Nielsen syndrome Long QT syndrome 5 KCNE2 Long QT syndrome 6 KCNE3 Brugada syndrome 5 KCNH2 Short QT syndrome KCNQ1 Jervell and Lange-Nielsen syndrome Romano–Ward syndrome Short QT syndrome Long QT syndrome 1 Familial atrial fibrillation 3 KCNQ2 BFNS1 Inward-rectifier KCNJ1 Bartter syndrome 2 KCNJ2 Andersen–Tawil syndrome Long QT syndrome 7 Short QT syndrome KCNJ11 TNDM3 KCNJ18 Thyrotoxic periodic paralysis 2 Chloride channel CFTR Cystic fibrosis Congenital absence of the vas deferens CLCN1 Thomsen disease Myotonia congenita CLCN5 Dent's disease CLCN7 Osteopetrosis A2, B4 BEST1 Vitelliform macular dystrophy CLCNKB Bartter syndrome 3 TRP channel TRPC6 FSGS2 TRPML1 Mucolipidosis type IV Connexin GJA1 Oculodentodigital dysplasia Hallermann–Streiff syndrome Hypoplastic left heart syndrome GJB1 Charcot–Marie–Tooth disease X1 GJB2 Keratitis–ichthyosis–deafness syndrome Ichthyosis hystrix Bart–Pumphrey syndrome Vohwinkel syndrome ) GJB3 / GJB4 Erythrokeratodermia variabilis Progressive symmetric erythrokeratodermia GJB6 Clouston's hidrotic ectodermal dysplasia Porin AQP2 Nephrogenic diabetes insipidus 2 See also: ion channels
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Perlman Syndrome
Wikipedia
Perlman syndrome Other names Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome Perlman syndrome has an autosomal recessive pattern of inheritance. ... Perlman syndrome is an uncommon genetic disorder grouped with overgrowth syndrome in which an abnormal increase is often noted at birth in the size of the body or a body part of the infant. ... Similarities with Beckwith-Wiedemann syndrome include polyhydramnios, macrosomia, nephromegaly and hypoglycaemia. ... As of 2008, fewer than 30 patients had ever been reported in the world literature. [1] See also [ edit ] Beckwith–Wiedemann syndrome Multiple abnormalities Renal cell carcinoma References [ edit ] ^ a b "Perlman syndrome" . ... PMC 1683946 . ^ Benacerraf, Beryl R. (2007), Ultrasound of fetal syndromes (2 ed.), Elsevier Health Sciences, p. 147, ISBN 978-0-443-06641-2 ^ a b Emery and Rimoisn's principles and practice of medical genetics, Volume 2 , Elsevier Health Sciences, p. 1522, ISBN 978-0-443-06870-6 External links [ edit ] Classification D ICD - 10 : C64 OMIM : 267000 MeSH : C536399 External resources Orphanet : 2849 v t e Tumors of the urinary and genital systems Kidney Glandular and epithelial neoplasm Renal cell carcinoma Renal oncocytoma Mixed tumor Wilms' tumor Mesoblastic nephroma Clear-cell sarcoma of the kidney Angiomyolipoma Cystic nephroma Metanephric adenoma by location Renal medullary carcinoma Juxtaglomerular cell tumor Renal medullary fibroma Ureter Ureteral neoplasm Bladder Transitional cell carcinoma Squamous-cell carcinoma Inverted papilloma Urethra Transitional cell carcinoma Squamous-cell carcinoma Adenocarcinoma Melanoma Other Malignant fibrous histiocytoma v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
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Barber–say Syndrome
Wikipedia
Barber Say syndrome Other names Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Barber-Say syndrome has an autosomal dominant pattern of inheritance Usual onset Neonatal Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth ( hypertrichosis ), fragile ( atrophic ) skin, eyelid deformities ( ectropion ), and an overly broad mouth ( macrostomia ). [1] Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome , which is also associated with dominant mutations in TWIST2 . [2] Contents 1 Signs and symptoms 2 Genetics 3 Epidemiology 4 References 5 External links Signs and symptoms [ edit ] Severe hypertrichosis, especially of the back Skin abnormalities, including hyperlaxity and redundancy Facial dysmorphism, including macrostomia Eyelid deformities, including ectropion Ocular telecanthus Abnormal and low-set ears Bulbous nasal tip with hypoplastic alae nasi Low frontal hairline Genetics [ edit ] Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance. [3] Exome sequencing and expression studies have shown that BSS is caused by mutations in the TWIST2 gene that affect a highly conserved residue of TWIST2 (twist-related protein 2). ... "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes" . American Journal of Human Genetics . 97 (1): 99–110. doi : 10.1016/j.ajhg.2015.05.017 . ... PMID 26119818 . ^ Online Mendelian Inheritance in Man (OMIM): BARBER-SAY SYNDROME; BBRSAY - 209885 ^ Universal protein resource accession number Q8WVJ9 for "TWIST2 – Twist-related protein 2 – Homo sapiens (Human) – TWIST2 gene & protein " at UniProt . ^ Isenmann S, Arthur A, Zannettino AC, Turner JL, Shi S, Glackin CA, Gronthos S (October 2009). ... PMID 11062344 . ^ "Orphanet: Barber Say syndrome" . www.orpha.net . January 2014 . ... External links [ edit ] Classification D ICD - 10 : Q87.0 OMIM : 209885 MeSH : C537908 DiseasesDB : 33294 External resources Orphanet : 1231 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome
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Limb–mammary Syndrome
Wikipedia
Limb–mammary syndrome Other names LMS [1] Specialty Medical genetics Limb–mammary syndrome is a cutaneous condition characterized by p63 mutations. [2] Contents 1 See also 2 References 3 Further reading 4 External links See also [ edit ] List of cutaneous conditions References [ edit ] ^ "OMIM Entry - # 603543 - LIMB-MAMMARY SYNDROME; LMS" . omim.org . ... Further reading [ edit ] GeneReviews/NCBI/NIH/UW entry on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome or AEC Syndrome, Hay-Wells Syndrome. Includes: Rapp-Hodgkin Syndrome External links [ edit ] Classification D ICD - 10 : Q82.4 OMIM : 603543 MeSH : C535903 DiseasesDB : 32743 SNOMED CT : 721972001 External resources Orphanet : 69085 OMIM entries on AEC v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) This dermatology article is a stub .TP63, CDKN2A, TP53, ESR1, PSMB9, RPE65, CKAP4, AKT1, ACTB, UVRAG, CALD1, PTDSS1, MYOCD, PTEN, IFNG, GAS6, SMUG1, JAK1, H3P10, KIT, MYC, MYLK, PIK3CG, PIK3CD, PGR, MDM2, PIK3CA, PIK3CB, ACTG2, DES, SLMAP, VCAN, CASQ2, TYRO3, H4C13, HDAC9, FZD6, H4C1, H4C6, H4C4, H4C5, H4C12, H4C11, H4C3, H4C8, H4C14, H4C2, SPINT2, MVP, MED12, H3P8, H4C15, MIR320A, MIR152, MIRLET7D, LINC01194, OSTN, GADL1, H4-16, AZIN2, CARD14, MIB1, HHAT, ANO1, SF3B6, CD274, LAMTOR2, PEG10, RPP14, SUB1, NAA10, TUBB3, CDK2AP2, H4C9, ABL1, TAM, HTC2, FABP3, EZH2, ELN, EEC1, DMD, DLX3, TIMM8A, DAP, CTNNB1, CSF3, CSF1, COMT, CFL2, CDSN, CD34, CCND2, BCL6, AXL, ALDH1A1, HRAS, KRAS, MLRL, LDHA, TP53BP1, TOP2A, STAT3, STAT1, SRF, SRC, SPINT1, SMTN, S100A9, RB1, PTK2, PSME1, MAP2K7, PLAGL1, PCNA, ROR2, NOTCH3, MKI67, MAA, SLC12A3
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Dysmelia
Wikipedia
-ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development . [1] Contents 1 Types 2 Occurrence rate 3 Causes 4 Syndromes with dysmelia 5 References 6 External links Types [ edit ] Syndactyly of the second and third toes Dysmelia can refer to [ citation needed ] missing ( aplasia ) limbs : amelia , oligodactyly , congenital amputation e.g. Tibial or Radial aplasia malformation of limbs: shortening (micromelia, rhizomelia or mesomelia ), ectrodactyly , phocomelia , meromelia , syndactyly , brachydactyly , club foot too many limbs: polymelia , polydactyly , polysyndactyly others: Tetraamelia , hemimelia , Symbrachydactyly Bilateral polydactyly with short fingers in Ellis-van Creveld syndrome patient Occurrence rate [ edit ] Birth defects involving limbs occur in 1 per 1000. [ citation needed ] Causes [ edit ] Dysmelia can be caused by [ citation needed ] inheritance of abnormal genes , e.g. polydactyly , ectrodactyly or brachydactyly , symptoms of deformed limbs then often occur in combination with other symptoms ( syndromes ) external causes during pregnancy (thus not inherited), e.g. via amniotic band syndrome teratogenic drugs (e.g. thalidomide , which causes phocomelia ) or environmental chemicals ionizing radiation ( nuclear weapons , radioiodine , radiation therapy ) infections metabolic imbalance Syndromes with dysmelia [ edit ] This section needs more medical references for verification or relies too heavily on primary sources . ... Find sources: "Dysmelia" – news · newspapers · books · scholar · JSTOR ( October 2020 ) Main page: Category:Syndromes with dysmelia 2p15-16.1 microdeletion syndrome Achard syndrome Ackerman syndrome Acrocallosal syndrome Acropectoral syndrome Adams-Oliver syndrome Aglossia adactylia Amniotic band syndrome Apert syndrome Autosomal recessive Robinow syndrome Basel-Vanagaite-Sirota syndrome ( Microlissencephaly - Micromelia syndrome) Campomelic dysplasia Cardiofaciocutaneous syndrome Catel–Manzke syndrome Cenani-Lenz syndrome Corneodermatoosseous syndrome Diploid triploid mosaic Ectrodactyly–ectodermal dysplasia–cleft syndrome Edwards syndrome Ellis–van Creveld syndrome Fibular dimelia diplopodia syndrome (Leg duplication mirror foot syndrome) Greig cephalopolysyndactyly syndrome Haas syndrome Hanhart syndrome Holt-Oram syndrome Humeroradial synostosis Johnson–Munson syndrome Joubert syndrome McKusick–Kaufman syndrome Mermaid syndrome Mesomelia-Synostoses syndrome (8q13 microdeletion syndrome) Microgastria Myhre syndrome Nager acrofacial dysostosis Neu-Laxova syndrome Patau syndrome Pfeiffer syndrome Poland syndrome Radial aplasia Roberts SC-Phocomelia syndrome (Phocomelia syndrome) Rubinstein–Taybi syndrome Silver–Russell syndrome Split-hand split-foot malformation (SHFM) TAR syndrome (thrombocytopenia with absent radius) Tetra-amelia syndrome Ulbright-Hodes syndrome VACTERL association Wallis–Zieff–Goldblatt syndrome References [ edit ] ^ (2006) Dysmelia (Limb Deficiency/Reduction). pp 312-322. ... External links [ edit ] DysNet: An organisation for people affected by Dysmelia (congenital limb difference) Reach: Association for Children with Upper Limb Deficiency) 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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Syndrome
Wikipedia
This substitution of terminology often confuses the reality and meaning of medical diagnoses. [3] This is especially true of inherited syndromes. For example, Down syndrome , Wolf–Hirschhorn syndrome , and Andersen syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the syndrome nomenclature. ... For example, toxic shock syndrome can be caused by various toxins; premotor syndrome can be caused by various brain lesions; and premenstrual syndrome is not a disease but simply a set of symptoms. ... In Russia those psychopathological syndromes are used in modern clinical practice and described in psychiatric literature in the details: asthenic syndrome , obsessive syndrome , emotional syndromes (for example, manic syndrome , depressive syndrome), Cotard's syndrome , catatonic syndrome , hebephrenic syndrome, delusional and hallucinatory syndromes (for example, paranoid syndrome, paranoid-hallucinatory syndrome, Kandinsky - Clérambault's syndrome also known as syndrome of psychic automatism, hallucinosis), paraphrenic syndrome , psychopathic syndromes (includes all personality disorders), clouding of consciousness syndromes (for example, twilight clouding of consciousness, amential syndrome also known as amentia, delirious syndrome , stunned consciousness syndrome, oneiroid syndrome ), hysteric syndrome, neurotic syndrome , Korsakoff's syndrome , hypochondriacal syndrome , paranoiac syndrome, senestopathic syndrome, encephalopathic syndrome . [5] [6] Some examples of psychopathological syndromes used in modern Germany are psychoorganic syndrome , depressive syndrome, paranoid-hallucinatory syndrome, obsessive-compulsive syndrome , autonomic syndrome, hostility syndrome, manic syndrome , apathy syndrome . [7] Münchausen syndrome , Ganser syndrome , neuroleptic-induced deficit syndrome , olfactory reference syndrome are also well-known. ... Thus, trisomy 21 is commonly known as Down syndrome. Until 2005, CHARGE syndrome was most frequently referred to as "CHARGE association". ... Examples include behavioral syndromes , as well as pollination syndromes and seed dispersal syndromes .
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Rapp–hodgkin Syndrome
Wikipedia
Rapp–Hodgkin syndrome Other names Ectodermal dysplasia, anhidrotic, with cleft lip/palate [1] Rapp–Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene mutation. However, it was recently shown to the same disease as Hay–Wells syndrome . [2] It was first characterized in 1968. [3] Contents 1 See also 2 References 3 Further reading 4 External links See also [ edit ] Punctate porokeratosis List of cutaneous conditions References [ edit ] ^ "Rapp–Hodgkin syndrome" . ... "Rapp–Hodgkin and Hay–Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder". ... Further reading [ edit ] GeneReviews/NCBI/NIH/UW entry on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome or AEC Syndrome, Hay–Wells Syndrome. Includes: Rapp–Hodgkin Syndrome External links [ edit ] Classification D OMIM : 129400 MeSH : C535289 External resources Orphanet : 3022 OMIM entries on AEC v t e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 Feingold syndrome Saethre–Chotzen syndrome 1.3 Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 ( Intracellular receptor ): Thyroid hormone resistance Androgen insensitivity syndrome PAIS MAIS CAIS Kennedy's disease PHA1AD pseudohypoaldosteronism Estrogen insensitivity syndrome X-linked adrenal hypoplasia congenita MODY 1 Familial partial lipodystrophy 3 SF1 XY gonadal dysgenesis 2.2 Barakat syndrome Tricho–rhino–phalangeal syndrome 2.3 Greig cephalopolysyndactyly syndrome / Pallister–Hall syndrome Denys–Drash syndrome Duane-radial ray syndrome MODY 7 MRX 89 Townes–Brocks syndrome Acrocallosal syndrome Myotonic dystrophy 2 2.5 Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 ARX Ohtahara syndrome Lissencephaly X2 MNX1 Currarino syndrome HOXD13 SPD1 synpolydactyly PDX1 MODY 4 LMX1B Nail–patella syndrome MSX1 Tooth and nail syndrome OFC5 PITX2 Axenfeld syndrome 1 POU4F3 DFNA15 POU3F4 DFNX2 ZEB1 Posterior polymorphous corneal dystrophy Fuchs' dystrophy 3 ZEB2 Mowat–Wilson syndrome 3.2 PAX2 Papillorenal syndrome PAX3 Waardenburg syndrome 1&3 PAX4 MODY 9 PAX6 Gillespie syndrome Coloboma of optic nerve PAX8 Congenital hypothyroidism 2 PAX9 STHAG3 3.3 FOXC1 Axenfeld syndrome 3 Iridogoniodysgenesis, dominant type FOXC2 Lymphedema–distichiasis syndrome FOXE1 Bamforth–Lazarus syndrome FOXE3 Anterior segment mesenchymal dysgenesis FOXF1 ACD/MPV FOXI1 Enlarged vestibular aqueduct FOXL2 Premature ovarian failure 3 FOXP3 IPEX 3.5 IRF6 Van der Woude syndrome Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 Hyperimmunoglobulin E syndrome 4.3 Holt–Oram syndrome Li–Fraumeni syndrome Ulnar–mammary syndrome 4.7 Campomelic dysplasia MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4.11 Cleidocranial dysostosis (0) Other transcription factors 0.6 Kabuki syndrome Ungrouped TCF4 Pitt–Hopkins syndrome ZFP57 TNDM1 TP63 Rapp–Hodgkin syndrome / Hay–Wells syndrome / Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 / Limb–mammary syndrome / OFC8 Transcription coregulators Coactivator: CREBBP Rubinstein–Taybi syndrome Corepressor: HR ( Atrichia with papular lesions ) This Genodermatoses article is a stub .
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Tar Syndrome
Wikipedia
TAR syndrome Other names Thrombocytopenia with absent radius syndrome Specialty Medical genetics TAR syndrome ( thrombocytopenia with absent radius ) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count. [1] Contents 1 Signs and symptoms 2 Genetics 3 Treatment 4 Epidemiology 5 History 6 References 7 Further reading 8 External links Signs and symptoms [ edit ] Presents with symptoms of thrombocytopenia , or a lowered platelet count, leading to bruising and potentially life-threatening hemorrhage . [2] Absence of the radius bone in the forearm with preservation of the thumb [ citation needed ] . Other common links between people with TAR syndrome include anemia , heart problems, kidney problems, knee joint problems, and frequently milk allergy . ... "Thrombocytopenia Absent Radius Syndrome." . In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, Toriello HV (eds.). ... "New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome" . review. Current Opinion in Genetics & Development . 23 (3): 316–23. doi : 10.1016/j.gde.2013.02.015 . ... External links [ edit ] Thrombocytopenia Absent Radii research study of Inherited Bone Marrow Failure Syndromes (IBMFS) GeneReview/NCBI/NIH/UW entry on Thrombocytopenia Absent Radius Syndrome Classification D ICD - 10 : Q87.2 ICD - 9-CM : 287.33 OMIM : 274000 MeSH : C536940 DiseasesDB : 29769 v t e Congenital abnormality syndromes Craniofacial Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome Short stature 1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Limbs Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation / mesoderm : Caudal regression syndrome Ectromelia Sirenomelia VACTERL association Overgrowth syndromes Beckwith–Wiedemann syndrome Proteus syndrome Perlman syndrome Sotos syndrome Weaver syndrome Klippel–Trénaunay–Weber syndrome Benign symmetric lipomatosis Bannayan–Riley–Ruvalcaba syndrome Neurofibromatosis type I Laurence–Moon–Bardet–Biedl Bardet–Biedl syndrome Laurence–Moon syndrome Combined/other, known locus 2 ( Feingold syndrome ) 3 ( Zimmermann–Laband syndrome ) 4 / 13 ( Fraser syndrome ) 8 ( Branchio-oto-renal syndrome , CHARGE syndrome ) 12 ( Keutel syndrome , Timothy syndrome ) 15 ( Marfan syndrome ) 19 ( Donohue syndrome ) Multiple Fryns syndrome v t e Chromosome abnormalities Autosomal Trisomies /Tetrasomies Down syndrome 21 Edwards syndrome 18 Patau syndrome 13 Trisomy 9 Tetrasomy 9p Warkany syndrome 2 8 Cat eye syndrome / Trisomy 22 22 Trisomy 16 Monosomies / deletions ( 1q21.1 copy number variations / 1q21.1 deletion syndrome / 1q21.1 duplication syndrome / TAR syndrome / 1p36 deletion syndrome ) 1 Wolf–Hirschhorn syndrome 4 Cri du chat syndrome / Chromosome 5q deletion syndrome 5 Williams syndrome 7 Jacobsen syndrome 11 Miller–Dieker syndrome / Smith–Magenis syndrome 17 DiGeorge syndrome 22 22q11.2 distal deletion syndrome 22 22q13 deletion syndrome 22 genomic imprinting Angelman syndrome / Prader–Willi syndrome ( 15 ) Distal 18q- / Proximal 18q- X / Y linked Monosomy Turner syndrome (45,X) Trisomy / tetrasomy , other karyotypes / mosaics Klinefelter syndrome (47,XXY) XXYY syndrome (48,XXYY) XXXY syndrome (48,XXXY) 49,XXXYY 49,XXXXY Triple X syndrome (47,XXX) Tetrasomy X (48,XXXX) 49,XXXXX Jacobs syndrome (47,XYY) 48,XYYY 49,XYYYY 45,X/46,XY 46,XX/46,XY Translocations Leukemia / lymphoma Lymphoid Burkitt's lymphoma t(8 MYC ;14 IGH ) Follicular lymphoma t(14 IGH ;18 BCL2 ) Mantle cell lymphoma / Multiple myeloma t(11 CCND1 :14 IGH ) Anaplastic large-cell lymphoma t(2 ALK ;5 NPM1 ) Acute lymphoblastic leukemia Myeloid Philadelphia chromosome t(9 ABL ; 22 BCR ) Acute myeloblastic leukemia with maturation t(8 RUNX1T1 ;21 RUNX1 ) Acute promyelocytic leukemia t(15 PML ,17 RARA ) Acute megakaryoblastic leukemia t(1 RBM15 ;22 MKL1 ) Other Ewing's sarcoma t(11 FLI1 ; 22 EWS ) Synovial sarcoma t(x SYT ;18 SSX ) Dermatofibrosarcoma protuberans t(17 COL1A1 ;22 PDGFB ) Myxoid liposarcoma t(12 DDIT3 ; 16 FUS ) Desmoplastic small-round-cell tumor t(11 WT1 ; 22 EWS ) Alveolar rhabdomyosarcoma t(2 PAX3 ; 13 FOXO1 ) t (1 PAX7 ; 13 FOXO1 ) Other Fragile X syndrome Uniparental disomy XX male syndrome / 46,XX testicular disorders of sex development Marker chromosome Ring chromosome 6 ; 9 ; 14 ; 15 ; 18 ; 20 ; 21 , 22