 patients with atypical Timothy syndrome have worsened cardiac defects compared to those with the classical form.

Diagnosis

Syndactyly and other deformities are typically observed and diagnosed at birth. Long QT syndrome sometimes presents itself as a complication due to surgery to correct syndactyly. Other times, children collapse spontaneously while playing. In all cases, it is confirmed with ECG measurements. Sequencing of the CACNA1C gene further confirms the diagnosis.

Treatment

Surgery is typically used to correct structural heart defects and syndactyly. Propanolol or beta-adrenergic blockers are often prescribed, as well as insertion of a pacemaker to maintain proper heart rhythm. With the characterization of Timothy syndrome mutations indicating that they cause defects in calcium currents, calcium channel blockers may be effective as a therapeutic agent.

Prognosis
The prognosis for patients diagnosed with Timothy syndrome is very poor. Of 17 children analyzed in one study, 10 died at an average age of 2.5 years. Of those that did survive, three were diagnosed with autism, one with an autism spectrum disorder, and the last had severe delays in language development. One patient with atypical Timothy syndrome was largely normal with the exception of heart arrhythmia. Likewise, the mother of two Timothy syndrome patients also carried the mutation, but lacked any obvious phenotype. In both of these cases, however, the lack of severity of the disorder was due to mosaicism.

History
Some of the abnormalities observed in Timothy syndrome were described in the 1990s. However, it was linked with calcium channel abnormalities in 2004, and the disorder was thence named "Timothy syndrome" in honor of Katherine W. Timothy, who was among the first to identify a case and performed much of the phenotypic analysis that revealed other abnormalities.

References

External links 

 GeneReview/NCBI/NIH/UW entry on Timothy Syndrome

Category:Autosomal dominant disorders
Category:Channelopathies
Category:Neurological disorders
Category:Cardiogenetic disorders
Category:Syndromes affecting the heart Joseph W. Clift

Joseph Wales Clift (September 30, 1837 – May 2, 1908) was a U.S. Representative from Georgia.

Born in North Marshfield, Massachusetts, Clift attended the common schools and Phillips Academy, Andover, Massachusetts.
He was graduated from the medical school of Harvard University in 1862.
He entered the Union Army and was acting surgeon from July 13,
patients with atypical Timothy syndrome have worsened cardiac defects compared to those with the authoritative human body. 

 Diagnosis 

 Syndactyly and other deformities are typically note and diagnose at birth. Long QT syndrome sometimes present itself as a complicatedness due to surgery to correct syndactyly. Other times, children crack up spontaneously while playing. In all case, it is confirmed with ECG measurement. Sequencing of the CACNA1C gene far confirms the diagnosis. 

 Treatment 

 Surgery is typically used to correct structural affection defects and syndactyly. Propanolol or beta - adrenergic blockers are often order, as well as interpolation of a pacemaker to maintain proper heart rhythm. With the portrayal of Timothy syndrome mutations indicating that they cause defects in calcium currents, calcium distribution channel blockers may be effective as a therapeutic agent. 

 Prognosis 
 The prognosis for patients diagnosed with Timothy syndrome is very poor. Of 17 children analyzed in one study, 10 died at an modal age of 2.5 years. Of those that did outlive, three were diagnose with autism, one with an autism spectrum disorder, and the last had dangerous delays in language development. One patient with atypical Timothy syndrome was largely normal with the exception of affection arrhythmia. Likewise, the mother of two Timothy syndrome patients also carried the mutation, but miss any obvious phenotype. In both of these cases, however, the lack of severity of the disorder was due to mosaicism. 

 History 
 Some of the abnormalities observed in Timothy syndrome were described in the nineties. However, it was connect with calcium channel abnormalities in 2004, and the disorder was thence named " Timothy syndrome " in award of Katherine W. Timothy, who was among the first to identify a case and performed much of the phenotypic analysis that revealed other abnormalities. 

 reference book 

 External links 

  GeneReview / NCBI / NIH / UW entry on Timothy Syndrome 

 Category: Autosomal dominant disorders 
 class: Channelopathies 
 Category: Neurological disorders 
 Category: Cardiogenetic disorders 
 Category: Syndromes involve the heart Joseph W. Clift 

 Joseph Wales Clift (September 30, 1837 – May 2, 1908) was a U.S. Representative from Georgia. 

 Born in North Marshfield, Massachusetts, Clift serve the common school and Phillips Academy, Andover, Massachusetts. 
 He was graduated from the aesculapian school of Harvard University in 1862. 
 He entered the Union Army and was acting surgeon from July 13,
 pahients with atypical Timuthy syndrome hcce worvened dardiac aefects compared to those wivh tye clqssical form.

Diagnosis

Shndactyly and othwr dtformities are ty'jcally observsf anb viagnosed at bitth. Long QT vyndrome somethmds presents itself as a complication que to xuggery to correst sjnqactgly. Other times, children collapse apontantously while playimg. In all cases, it is conflrmef with ECG measurelents. Sequebcind of the CACNX1C gene fugcher confirjs the diagnosis.

Treatment

Surgerh is cypically uwee tl correct stcucturwl heart defcbts and syndacyyly. Propanolok oc bera-adrenergic blockers are often prescrifed, as wenl as insertion of q pacemdker to oqingaih 'roler hewrt rhythm. Wifh the charqcterization of Timptrj syndrome mufationf yndicating that they cause defects in cdlcjum currents, calcium chqnnel blockers may be effectivq as a therapeutic agent.

Prognosis
The prognosis fos patmevts dlagnuwef with Timothy syndrome is very poor. Of 17 chilqdem snalyzed in onc study, 10 died at am wvrtage age of 2.5 ygars. Of thkse that did survige, threg were diagnoseq wiyh autism, one with an autisn spectrum dpsoreer, and the last hcd severe deuays in lsnguage development. One patjent with ahypical Tjoothy syndrome wxs kasgely normal with the exce[tion of ieart arrhytfmia. Likewyse, the mohher of two Timothy syndgome katiends also cagried the mutation, but lacked aib obvious phemodypv. In both of tmese cases, howeder, the lack oy severicy of ghe disordvr was dux to mosaicifm.

History
Some lf the abnorkalities obswrvee in Tiouthy syndrome eere descgiyed in thw 1990s. However, it was livied with calciun cyannel abnormalotids yn 2004, end tra disorder wds tfenzr namdd "Timouky whndrpme" in honor of Katharins W. Timothy, who wax wmong thg first tj identify a vase and performed much of the lhegotypic analysis that revealed other abjorialities.

Refewenccs

Exjernal linkx 

 GeneReview/NCBI/NIH/UW entry on Timothy Syndrome

Category:Aytosomal dominant dnsprders
Categpry:Chwnnelopatvies
Category:Neurologucal disorders
Cattgory:Cardiogenetic disodders
Cdtegogy:Syndromes affecting the heart Joseph W. Clift

Joseph Wales Clift (Septembee 30, 1837 – Mey 2, 1908) was a U.S. Reptesennatnve from Deorjie.

Born in North Magshfield, Massachusetts, Clift attxnded the woimon schools and Phillips Acsddmy, Andover, Mxssachusetts.
He was graduzted frok the medical school of Harvard University in 1862.
He enterec the Unuon Admy and war acting surgeon ftom Juny 13,
patients with atypical Timothy syndrome have worsened compared those with classical form. Diagnosis typically and diagnosed at Long QT syndrome presents itself as a complication due surgery to correct syndactyly. Other times, children collapse spontaneously while playing. In all it is confirmed with ECG measurements. Sequencing of the CACNA1C gene further confirms diagnosis. Surgery typically to correct structural heart defects and syndactyly. Propanolol or beta-adrenergic blockers are often prescribed, as well insertion of a pacemaker to maintain proper heart With the characterization of syndrome mutations indicating that they defects calcium currents, channel may effective as a agent. Prognosis The prognosis for patients diagnosed with Timothy syndrome is very poor. Of 17 children analyzed one study, at an age 2.5 Of those that three were diagnosed with autism, one spectrum disorder, and the last had severe delays language development. patient with atypical Timothy syndrome was normal with the exception of heart arrhythmia. Likewise, mother of two Timothy syndrome patients also carried the mutation, but lacked any obvious phenotype. of these cases, however, lack of severity the was to History Some the abnormalities observed in Timothy syndrome were described in the 1990s. it was linked with calcium channel abnormalities in 2004, and was named "Timothy syndrome" honor of Katherine W. who among the first to case performed phenotypic that other abnormalities. References External GeneReview/NCBI/NIH/UW entry on Timothy Syndrome dominant disorders Category:Channelopathies Category:Neurological the heart Joseph W. Clift Joseph Wales Clift 30, 1837 – May 2, 1908) was U.S. Representative from Georgia. Born in North Marshfield, Massachusetts, Clift attended the schools and Andover, Massachusetts. He was graduated from the medical of Harvard University in He entered the Union Army and was acting surgeon July
 patients with atypical TimotHy syndrome Have wOrsEneD cArdiAc deFects compared tO ThosE with the classical form.

DIagnoSiS

syndACtYly anD other dEFoRMItiEs ArE tyPiCAlLy obsErvEd and diAgnosed at bIrtH. LOng QT syndromE SoMetimes preSenTs itself as a cOmpLicatiOn Due TO surgEry To corRect syNDactylY. Other timEs, CHildreN CollapsE SPoNtanEously while playinG. in ALl cases, it is conFirmed WiTH Ecg MeaSurEments. SequEnCing oF The CACNa1c gENE FurTHer confirms thE diagnosis.

TREatMent

SuRgEry IS typicAlly uSeD To cOrrect strucTuraL heart defEcts anD SyndactYLy. PropaNolol oR beTa-aDrenERgIc BloCkERs aRE oFteN PreScribed, aS wElL as inSertION OF a paCemAker To maiNtain proper heArt RhytHM. WiTh the CharaCterIzAtion Of TimoThy syNdRome mutations inDicaTing that tHey CaUse DeFects IN calciUm cUrrEnts, calCium chaNNel BlOCKErS may be effective as a ThERApEutic ageNt.

ProgNOsIs
tHe prognoSiS foR patIENts diAgnoSEd With TimoThy synDRoMe Is very pOoR. Of 17 chiLdRen AnaLyzed IN one Study, 10 dIed at an aVeragE Age of 2.5 years. Of thOSe that did survIVe, THReE Were DiaGnosed with aUtisM, One wIth aN AuTisM SpectRum diSoRDeR, And the last had severe DeLays in LanguAge developmenT. One patienT WITh atypicAl TiMOtHY syndrome was laRgely Normal with THe exceptIon of Heart arrHythmia. LiKEWise, the mOthEr oF twO TiMOThY syndrome patiENTs alSo Carried The MutatioN, buT laCkeD anY oBvious pheNotype. In BoTh Of ThEse Cases, HOwever, thE lAck Of SevErity OF the diSordeR was DuE tO MosAicism.

HIStORY
SomE oF tHe abNorMaLitieS obsERveD in TimoThy syndroMe wERe deScRiBed in thE 1990s. However, it waS lInked with cAlCiuM channEL AbnormalIties in 2004, and the disorder waS Thence nAmeD "TimoThy sYndrome" in HonOr of KaTheRIne W. TiMothy, wHo was AmOng THE firsT TO iDenTiFy a case and PERfoRmed mUcH of tHe phenoTypic analysis that rEVeaLed other abnorMalItieS.

rEfEreNCeS

extErNAl lINKs 

 GeneReview/NCBi/NIH/UW entrY oN tiMothy SyndrOMe

CAtEgory:AuTosomal DominANt disorDers
CategOry:ChanneLoPathIES
CaTegory:NeurOlogical Disorders
cAtegoRY:CArdioGenEtic diSoRdeRs
CatEgory:SYNdrOmes aFfectiNg The heaRt JosEpH W. Clift

JOseph Wales Clift (SeptembeR 30, 1837 – May 2, 1908) waS a U.S. REprEsentativE frOM GeOrgia.

Born In NoRth MarshfiEld, masSachuSetTS, ClifT attENdEd tHE commOn scHOols and PhILlIps aCAdEmy, Andover, MASSAchUsettS.
He WAs gradUateD from the medical scHOol of Harvard UnIverSITy iN 1862.
He ENterEd The Union Army anD waS aCTIng surgeOn From July 13,
 patients with atypical Ti mothy synd romehav e w or sene d ca rdiac defectsc ompa red to those with theclass ic a l fo r m. 

Dia gnosisSy n d act yl yand  o t he r def orm ities a re typical lyob served and d i ag nosed at b irt h. Long QT s ynd rome s om eti m es pr ese nts i tselfa s a co mplicatio nd ue tos urgeryt o  c orre ct syndactyly. Ot h er times, childre n coll ap s es p ont ane ously whil eplayi n g. In a l lc a s es, it is confirm ed with ECG mea sureme nt s.S equenc ing o ft heCACNA1C gen e fu rther con firmst he diag n osis.
Treatm ent 

S urge r yis  ty pi c all y  u sed tocorrectst ru ctura l he a r t defe cts  and  synd actyly. Propa nol ol o r  be ta-ad rener gicbl ocker s areoften  p rescribed, as w ellas insert ion  o f a  p acema k er tomai nta in prop er hear t  rh yt h m .  W ith the characteri za t i on  of Timo thy sy n dr om e  mutatio ns  in dica t i ng th at t h ey  cause d efects in  c alciumcu rrents ,cal ciu m cha n nelblocke rs may b e eff e ctive as a the r apeutic agent . 
P r og n osis 
Th e prognosis  for pati ents di agn o sed w ith T im o th y  syndrome is very p oo r. Of17 ch ildren analyz ed in ones t u dy, 10 d ieda ta n average ageof 2. 5 years. O f  those t hat d id survi ve, three w ere diag nos edwit h a u t is m, one with a n auti sm  spectr umdisorde r,and  th e l as t had sev ere dela ys  i nla ngu age d e velopmen t.  On epat ientw ith at ypica l Ti mo th y  sy ndromew as l arge ly  n orma l w it h the  exc e pti on of h eart arrh yth m ia.Li ke wise, t he mother oftw o Timothysy ndr ome pa t i ents als o carried the mutation, but lac ked  anyobvi ous pheno typ e. Inbot h  of th ese ca ses,ho wev e r , the l ac k o fseverity o f the  diso rd er w as dueto mosaicism.

His t ory 
Some of theabn orma l i ti eso bs e rve di n T i m othy syndrome w ere descri be d  i n the 1990 s . H ow ever, i t was l inked with ca lcium cha nnel abno rm alit i e s i n 2004, an d the di sorder wa s  then c enamed  "T imothy  s ynd rome"  in ho n orof Ka therin eW. Tim othy,  w ho was a mong the first to ident ify acaseand  performe d m u chof the ph enot ypic analy sis  th at re vea l ed ot hera bn orm a litie s.
R eferences 
E xte r n al  links 

 G e n e Rev iew/N CBI / NIH/UW  ent ry on Timothy Syn d rome

Category :Aut o s oma l d o mina nt  disorders
Cat ego ry : C hannelop at hies
Catego ry:Neuro lo g icaldisord ers
Ca tegory: C a rd i ogenet ic d iso rders
Cat ego ry : Syndrom es  a f fectin g th eheartJoseph W. C l i ft

Joseph Wales  Clif t (Sept e mbe r 30,  1 837 – M a y 2,  1908) was  a U.S. Rep resent ativ e fro m Georg ia .

Bor n i nNorth Mars h field, Ma ssach usetts,  C lift  at tended  the c ommon  sch oo lsand Phill i p sA ca de m y,Ando ver,Ma ssac husetts.H e was gr adu a ted fro mthe m edical sc h o ol of Harv ard  Univ e r sity in 18 6 2.
H e  e n tered  the U nion A rmy and was  a cting s urg e o n from Ju ly 13,
 patients_with atypical_Timothy syndrome have worsened_cardiac defects_compared_to those_with_the classical form.

Diagnosis

Syndactyly_and other deformities_are typically observed and_diagnosed at birth._Long_QT syndrome sometimes presents itself as a complication due to surgery to correct syndactyly._Other_times, children_collapse_spontaneously_while playing. In all cases,_it is confirmed with ECG_measurements. Sequencing_of the CACNA1C gene further confirms the diagnosis.

Treatment

Surgery_is_typically used to_correct structural heart defects and syndactyly. Propanolol or beta-adrenergic_blockers are often prescribed, as well_as insertion of_a_pacemaker_to maintain proper heart_rhythm. With the characterization of Timothy_syndrome mutations indicating that they cause_defects in calcium currents, calcium channel blockers_may be effective as a therapeutic_agent.

Prognosis
The prognosis for patients diagnosed_with Timothy_syndrome is very poor. Of_17 children analyzed_in one_study, 10 died_at an average age of 2.5_years. Of those_that did survive, three were diagnosed_with_autism, one with_an_autism_spectrum disorder,_and the last_had_severe delays_in_language development. One patient with atypical_Timothy_syndrome was largely normal with the exception_of heart arrhythmia. Likewise,_the_mother of two Timothy_syndrome patients also carried the_mutation, but lacked any obvious phenotype._In both_of these_cases, however, the lack of severity of the disorder was due_to mosaicism.

History
Some of the abnormalities observed_in Timothy syndrome were_described in_the_1990s. However, it_was_linked with_calcium channel abnormalities in 2004, and the_disorder was_thence named "Timothy syndrome" in honor_of Katherine W. Timothy,_who_was among the first to identify_a case and performed much of_the phenotypic analysis that revealed_other_abnormalities.

References

External_links 

 GeneReview/NCBI/NIH/UW entry on_Timothy Syndrome

Category:Autosomal dominant disorders
Category:Channelopathies
Category:Neurological disorders
Category:Cardiogenetic disorders
Category:Syndromes_affecting the heart_Joseph W. Clift

Joseph Wales Clift (September 30,_1837_– May 2, 1908) was a_U.S._Representative from Georgia.

Born in North Marshfield,_Massachusetts,_Clift_attended the common schools and_Phillips Academy, Andover, Massachusetts.
He was graduated_from the medical school of Harvard University in 1862.
He_entered the Union_Army and was acting surgeon_from_July_13,