11713723, 953M Radial Dysplasia - StalPearls - NCBI Bookshel Radial Dysplasia ‘Olson N, Hosseinzadeh S Continuing Education Activity ‘The radial club hand encompasses a spectrum of complex congeital malformation of he radial sde of the forearm. These are uncommon and «can ange from a mildly hypoplastic thumb to # completly absent radius, Ral club hand is commonly associated with number of syndromes {for which evaluation must occu Mild deficiency can be managed nonopertvely,whercas severe cases are usually treated with suger. This activity outlines the evaluation and management of radial club hand andl hs the rol ofthe interpofesionl team in evaluating and ‘eating patients with this eonditon Objectives: + Outine the typical presentation ofa pati with adil cub and ‘+ Explain the importance of eatlyevalation of Fanconi anemia inpatients wit radia elu hand, + Review the general treatment strategie, both surges! and nonsingiea, of radial la hand + Describe the importance of coordination and communication among the intrprofessonal team to improve outcomes fr patents with radial club hand. Acoes ce mukipe choice qustions on his topic Introduction ‘Radial clu and ia tem describing a group of complex congenital malformations ofthe radial sie ofthe forearm. It comprise a spectum of| ‘condition that varies widely om ham’ hypoplasia to an absent radius a first ray and includes hypoplasia ofthe associated muscles, ligaments tendons nerves, and blood vessels) Other terms tat refer fo the same condition ae radial dysplasia, radial longitudinal deficiency, and radial ay deficiency Jean-Louis Petit described the fist cate of aia club hand in 1733, whe documented a case of a newbom male with bilateral absent ai Kat, in 1928 reviewed 250 cass of radia clubhand and canbe considered the fist alte at a comprehensive stay of the condition 2] Etiology ‘The genetic cause of radial dysplasia remains unknown, bu suspicion has long rested on a decreas in the fibrblast growth tor faneton 38 8 result ofa sonic hedgehog gene mutation 3] Several potent cassst of radial clu band have been proposed, including vascular insuliiency, ‘nrautrine compression, cnvizonmental causes, drug exposure in eo, and genetic causes Epidemiology ‘Radial dysplasia an uncommon condition, but is stil the most common typeof congenital longitudinal deficieney(S] Raia dysplasia occurs ina higher prevalence in boys, wth 3 to 2 ratio 6] Radial club hand has ben estimated to occur in an estimated 1 in $5,000 births, although study in Finland estimated radial dysplasia to occur in coset 1 in 5,000 tive bis (5)(7) History and Physical ‘Cildeen with adil dysplasia wil present with 2 wide variety of dhnormel thumb and forearm manifestations, asthe dscase represents 2 spectrum ranging fom mild to severe, They wil often present with a raillydieeted angulation deformity ofthe hand such thatthe had is fen perpendicular othe forearm The thumb is generally bypopastic or abscot. The bony abnormalities are most apparent, but underlying nuscles, tendons, nerve, and joins are affected a wel. The ula ie alo short and bowed rally as well, generally matching the degree of radial defcincy 4) Radial club hands offen bilateral and children with ral dysplasia in one extremity should undergo a thorough examination of bath upper extremities 5] Evaluation Radiogrphicly, the involvement of the thumb, rads, and carpal bones increases asthe severity ofthe diteseinereases, Rail club hand is classified by radiographs and was classified into four types by Bayne and Klug in 19878] Type Is characterized by short distal radius (the ial growth plates presen). Type I involves a hypoplastic radius whet itis smaller an thinner than she ulna, and no growth plate i present. ‘Type I shows a paral absence ofthe radu (a small proximal segment ofthe radius resins), Type TV involves total absence of the ads 1811713723, 953M Radial Dysplasia - StalPearls - NCBI Bookshel ated with a numberof congenital yndiomes, Indsed, only one-third of patents with radial dysplasia present with an folated upper extremity malformation, thus underscoring the need for complete physical examination to reveal commonly “The condition is also commonly ass associated congenital syndromes.) A consultation witha clinical geneticist is recommend fo identity possible congenital syérome associations. Some of the most common congenital syndromes assoiatd wih ada dysplasia are VACTERL Associaton, VATER syndrome, Hott-Oram syndrome, TAR syadrome, and Fanconi anemia. Spine x-rays, renal ultrasound, complete ood coun, and eehocandiogsaphy ae needed to idemify associated condos that may be preset (9) \VACTERL association (vertebral defects, anal atesa, cardiac defects, wacheoesophageal fistula, renal abnormalities, and limb abnormalies) is ‘susly sporadic even, thought to be due to an en in mesodermal development [10 olt.Oram syndrome isan association of cardiopulmonary and link defects (also known as hearchand syndrome] The ero has been ‘dentfed asa mutation on chromosome 12/12] In individuals with TAR (hrombocytopeia-absent radios) syarome, the reins completely absent in addition to thrombocytopenia. The ‘thumb is useally present but hypoplastic Fanconi anemia is an autosomal recessive conition characterized by severe hypoplasia or aplasia of the bone marow with anemia, lukopei and thrombocytopenia. In addition to genetic counseling to discover posible associations with he previously mentioned condition above, iis slso recommended to sreen for Fanconi anemia in al patente with radial dysplasia who do nt bave a known identifiable syndrome, iis possible to diagnose Fanconi anemia bafore hone marow fale occurs, end euly diagnosis would provide suficint ime to search for ‘arrow match that would prevent he child from dying fom splstc anemia, Chromosomal breakage sts ae recommended forall children with deficiencies ofthe thumb and radial border of the forearm (4), Treatment / Management ‘Teestmnt of radial yp ‘ight soft issues and raial-sidd structures to help wi should sat son ater birth, ntl management consists of trtching, manipulation, and splinting. Tis sctches passive comection ofthe deformity and allows the hand wo hecome aligned with the ulna ‘Stretching shouldbe done unt the time of surgery as preoperative soft-tissue stretching is necessary for any succesful surgical procedures. This can be done by aplication of various splits or with serial cating. A stretching program may be conducted at home in combination with night pling Additionally, the application ofan externa ization device may aid with swetching tight radial tissues. This type of diswaction with extemal finaton prior to surgery is especially helpful for children with moe severe stages of redial dysplasia 1514] ‘Cildeen with mild adil dysplasia may require only stretching and splinting. Nonsurical wetment is also indicted fr chi fn with stable joints and minimal deformity as well a cideen with abnormalities that would preclude sugey, Surgery is avoided if a id hasan elbow «extension contacts, a the radial deviation ofthe wrists necessary forthe chil to bring the hand to their fae) ‘Surgical treatment of radial dysplasia ams to staghten the forearm ais and inerease upp ib length, a8 well as ether reconstructing or ablting the thumb with polcization ofthe index finger. The thumb and forearm comections ae done as staged procedures. The fist procedures to align the hand and wrist onto he distal ula, an tis is generally done before one year of ag. The nest stage, thumb reconstruction or ablation ‘with index polcizstion, i done approximately 6 months afters] ‘There are two geneal methods to align the wrist nto the distal ulna: wrist contlization and adiaiaton, Bringing the wrist nto aligment with ‘he distal ulna aims to increase stability and funtion use ofthe hand and wrist. Both centralization and radializaion require sofessue lesser {o beable to translate the carpus unary This often requires shaving the distal ul or eapal resection or may requie the aplication of an extemal ator and completion of wrist realignment alter procedure) A bilobed skin fap or dorsal rotation Nap can hep to transfer extra tissue from the ulna se ofthe wrist othe edi si] ‘Wrist centralization aligns the distal ulna withthe third digit metacarpal with fxation of pins fr stability|s] Radialization aligns the distal ulna withthe index metacarpal o comes he radial defonmity{16] Cntalization and radlizaion have shown equivalent outcomes in long-term etormity corection 17) Ia ysplasi, the afectod forearm i significantly shorter han the uaafectod forest. This difrence in length ea be corected by Iengthening the ulna with distraction techniques. This erection can be done ale entalization in oer children. These procedures ca affect lear growth, however and ational legthenings may be equied to maintain the correct ulnar length 18) Mild thumb hypoplasia that has adequate function and stability fr pinch, grip, an pretension may not ned surgiealcorection, Worse thumbs deformity and function may require various resonstructive procedures |) Sever thimb hypoplasia afen requires ablation to remove the thmb, Followed by pollcizaion ofthe index Fag to construct a functional thu [19 215‘i192, 959 aM Racial Dysplasia -StaPeatls-NCBI Bookshelf Differential Diagnosis Dire iagnotes that must he consdered include TAR (trombocytopena shen radius) syndrome, Fanconi anemia, ancoploiy(visoes "Band 18), VACTERL (vertebra defects, anal atesie, cardiac defects, wachooesophage iaetic mbryopath,teratogens,eetodaeyly, and smote band syndrome,(0] Fisala eenl sbnormaitis, and limb abnowalites, Staging ‘Bayne and Klug categorized ra 1 dysplasia into four categories as per the amount of rads present [8] Mild radial shortening is considered ype 1 Type I is characterized by radius hypoplasi, type I represents cass with partial radial absence, and complete absence ofthe radius consis 1ype IV. Thea, James et a mos the casifeation scheme by adding type N and 0 to desribe slated arpl anomalies in patents ‘with normal length distal radius, Type Il nd TV are the most comman categories and ae associated withthe greatest smount of wrist radial deviation (1}21), Prognosis ations can expect to experince some degre ofeeutence of wrist radial angulation(SIs| Long-term studies have shown that though lildeen with adil dysplasia may have significant estritions in strength and joi mobility, they had litle o no imitations om aetiity Participation in society was not affected by their physical imitations 22), Complications Folfow-up studies show the most common complications of wrs realignment procedures are stifiess and reurrene7](23] While the most ‘common complicaon ofeconsructon is pin tac inféstion, vascular complications are rate and result in long-term growth problems in the seansered bones 24) Deterrence and Patient Education ‘éucaion ofthe patent’ family is important to obtain he best possible outcomes in radial clib hand ntl meetings fr families should inelude xb of ing appon, isu ion of the nature of the condition and possible associated conditions and explaining realistic longterm progns ‘he condition. Families should be informed of vatious non-surgical options, a well as posible functional improvements and cosmetic resus obtained from surgery) Enhancing Healthcare Team Outcomes ‘Multdiscptinary coordination and direst communication between the child's peiatcin, the tcating orthopedic surgcon, ad other consulting spines provide the best care forthe chil. This i especially important in evaluating associated conditions, most notably life-theatening Fanconi anemia as noted above] In adtion, Understanding the tology and prognosis ofthe disorder will provide the parents ‘with information regarding the prenatal diagnosis for future pregnancies and possible options fr recurrence prevention, Therefore, an ‘nterproessional approsch is crucial, involving the pediatric orthopedic srgcon, clinical geneticist, obetetrcan redologistsonologis, and neonatoogist (25) Review Questions Access fee multiple choice questions an this topic, + Comment on this article References 1. James MA, MeCaroll HR, Manske PR. The spectrum of radial longitudinal deficiency: a modified classification. J Hand Surg Am. 1999 Novi24(6):1145-55. PubMed: 10584934] 2, Takagi T, Seki A, Takayama 8, Watanabe M. Current Concepts in Radial Club Hand. Open Onhop J. 20 PMC5847903) [PubMed 28603558) [3 Elmakky A, Stanghllin |, Landi, Peroseepe A. Role of Genetic Factors in he Pathogsnese of Radial Deficiencies in Humans. Cure ‘Genomics, 2015 Aug;16(4).264-8, [PMC fice stile: PMICAT6SS21][PubMed: 26962299] 4, Maselke SD, Seitz W, Lawton J Rail longitudinal deficiency. J Am Acad Onlop Surg 2007 Ja 5(1)41-52, PubMed: 17213381] Lourie GM, Lins RE. Radial longitudinal deficiency. A review end update, Hand Clin. 1998 Pb; 14(1:85-99, [Pubes 9526159] 6. Urban MA, Osterman AL. Management of radial dysplasia, Hand Clin, 1990 Nov:64):$89.605, [PubMed 2269674] 11:369-377, [PMC free ate 3511713723, 953M Radial Dysplasia - StalPearls - NCBI Bookshel 7. KoskimiosF,Lindfos N, Gisslr M, Peltonen J, Nietosvaara Y. Congenital pes ‘population-based study, J Hand Surg Am, 2011 Ju36(6): 1088-65, [PubMed 21601997) Bayne LG, Klug MS. Long-term review of the surgical treatment of ras deficiencies. J Hand Sung Am. 1987 Mar: 2(2):169-79. (PvbMed 3559066) 9. Goldfrb CA, Wall, Manske PR, Radia longitudinal deficiency: the incidence of associated medi and Surg Am, 2006 Sep31(7)1176.82, [PubMed 16948723] 10, im J Kim P, Hui CC. The VACTERL association: lesons from the Sone hedgehog pathway. Clin Genet. 2001 Mey:59(5) 306-15, (PubMed: 11359461) 11. HOLTM, ORAM S, Fania! hese disease with skeletal malformations. Br Heat J 1960 Apr:22(2}23642, [PMC fie atic: PMC1017650) (PubMed; 14402857] 12, Basson CT, Bachinsky DR, Lin RC, Levi, Plkins JA, Sous J, Grayzl D, Kroumpouzou P, Teil TA, Leblane-Simceski J Renal B, ‘Kocherlapat R, Seidman 1G, Seidman CE, Mutations in human TBXS [corte] cause limi and cardiac malformation in Hol symdrome, Net Genet 1997 Jan;15(1)30-5, [PubMed: 8988165] 13, Kessler Contalisution ofthe rail club hand by gradu distaction, J Hand Surg Br 1989 Feb;14(1)'37-42, [PubMed 2926219) 14, Nanchabal J, Tonkin MA, Pre-operative distraction lengbning for radial longitudinal deficiency J Mand Sung Br 1996 eb:21(1 108-7. (PubMed: 8676013) 15, Evans DM, Gateley DR, Lewis I. The us of ilobed fap inthe conection of raat club hand, J Hand Sug Br. 1995 Ju;20(3)333-7, (PubMed: 7561408] 16, Buck-Gromcko D, Railzation a anew treatment for rail club and. J Hand Surg Am, 1985 Nov; 10(6 P2):964-8 (PubMed: 4078287] 17, Geck MJ, Dorey F, Lawrence J, Johnson MK. Congen ‘Am, 1999 Nov24(6:1152-4, [PubMed 10584933] 18, Yoshida K, Kawabata H, Wada M, Growth ofthe ul 2011 Sepi31(6)6148, [PubMed 20881444] 19, Plancher KD, Kahlon RS, Diagnosis and treatment of congenital thumb hypoplasia. Hand ii, 1998 Febs14(1):101-18, [PubMed 9526160] 20, Society for Materal-Fetal Motivine(SMFMD. Ganda M, Rac MWF, McKinney I. Rail Ray Malformation, Am J Obstet Gynecl, 2019 ‘Dee}221(6)B16.BI8. [PubMed 31787159] ‘Vikki SK. Vasculrized metaarsophalangea join! ransfr for radial hypoplsia, Semin Plast Surg. 2008 Avg;22(3}'195-212. [PMC fise acl: PMC288487] [PubMed: 20867714) 22. Holtsag 1, van Wijk, HartogH, van der Molen AM, van der Sluis C. Long-term functional outcome of patints with longitudinal radial ty and participation, Disabil Rehabil, 2013 Aug:35(16): 1401-7. [Pubs im deficiencies and sssociated malformations in Finland: snd musculoskeletal conditions. 3 rads deficiency: radiographic outcome and survivorship analysis. Hand Surg er repeted bane lengthening in radial longitudinal deficiency. Pest Orthop 2 deficiency: erss-seetional evaluation of fnetion, 23187292) 23, amore E, Kozin SH, Thode J, Porter S. The rcurence of deformity afer surgical centralization for adil lubhand, J and Surg Am, 2000 Ju:25(): 745-51. [PubMed 10913218] 24, de lng JP, Moran SL, Vikki SK. Changing paalgms in the testment of radial club hand: microvascular join transfer for corection of radial deviasion and preservation of long-term grow. Clin Oxhop Surg 2012 Mari 1}96-88, [PMC fre atc: PMC3288493) [PubMed 22379554) 25, Frmito S, Dinatale A, Cara, Cavalicte A, Imbruglia L, RocuperoS, Prenatal diagnosis ofimb abnormalities: role of fetal lvasonography.JPronat Med, 2009 Aps;32):18-22. [PMC fos antele: PMC3279100][PubMed: 22430035] Disclosure: Nathanael Olson declares no relevant financial relationships with ineligible companies Disclosure: Shayan Hosscinzadch declares no relevant financial relationships with nsigible compenics Publication Details Author Information and Afiiations authors Nathanael Okon Shayan Hossa’ iatons 2 Nowa ats * aston Chilo’ Hospital, Manat Mil Schoo 46511713723, 953M Radial Dysplasia - StalPearls - NCBI Bookshel Publication History ant Update: ay 2, 2008, Copyright Copyigh’ © 202, Sates Pulihing LC. “his bookie tte undertha tama th rete Conmenatitsion NonConmerial NoDarvatves 8.0 neato (CO Y-NC-ND 40) ipereatvecorons onsen) whieh pes cherstotbue the wrk, provid a te aris ot are or used commercial Yo ar nat requ oan permission dstibst hs ari, proved al you ret be ator ar joa, Publisher ‘Sioa Pushing, Tras nd F) NLM Citation ‘ton, Hosseadeh S Rata Dyas, pated 2023 ay 3] I StsPea tere, Treasure and FL: StaPeats Pls 223 Jar, 55