M C e o d n i t ca in l u ORTHOTICS & BIOMECHANICS Ed in u g c at io n

Goals and Objectives At the completion of this article, the physician will be able to: Ectrodactyly 1) Define ectrodactyly of the foot. 2) List the various ectrodactyly as - sociated syndromes and characteris - of the Foot tics of each. 3) Discuss the common presenting clinical findings of ectrodactyly. Here’s an overview for the 4) Understand the basic human embryology and genetics associated evaluation and treatment of with the ectrodactyly defect. this condition. 5) Classify a pedal ectrodactyly de - formity based on roentgenographic findings 6) Develop a treatment plan for a patient with pedal ectrodactyly.

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By Mark A Caselli, DPM claw deformity in 1829, and Cruveil - EEC was first described by Eckholdt hier first used the term “lobster-claw” and Martins in 1804. The clinical ctrodactyly, by strict definition, in 1842. Pedal ectrodactyly may exist manifestations of ectodermal dyspla - is the congenital absence of all or as a unilateral or bilateral deformity sia include cutaneous alterations (dry, Eany part of a digit. The term ec - in many combinations with other de - thin, hyperkeratotic skin), trichodys - trodactyly originates from the Greek formities (Figure 2). It may be present plasia (thin, sparse hair with little pig - ektroma (abortion) and daktylos (fin - as an isolated deformity or simulta - mentation), onychodysplasia (brittle ger). The term is also applied to cleft neously with similar defects in the and dysplastic nails), dental anomalies foot, lobster foot, and crab-claw foot. In hand. It most frequently presents as (small or absent teeth with excessive ectrodactyly, one or more toes and part of a defect syndrome, including caries), and dyshidrosis (sweating dys - parts of their metatarsals are usually ab - defects of the eye, palate, audition, function). The cleft lip may or may sent. The first and fifth rays are usually and abnormalities of the kidneys. not be accompanied by a cleft palate. present (Figure 1). If a metatarsal is par - Defects in other locations may also tially or completely absent, its respec - Associated Syndromes be associated with the classical EEC tive toe is always absent. The incidence Several syndromes have been asso - triad, such as the eyes, including defects of cleft foot is 1:90,000 live births. Ec - ciated with ectrodactyly. One of the in the nasolacrimal duct, entropion, trodactyly was first documented in most common is the EEC syndrome telecanthus, trichiasis, absent lashes,and 1770 among a tribe of Guiana Indians. consisting of ectodermal dysplasia, ec - meibomian gland disfunction, manifest - Von Walther described the crab- trodactyly, and cleft lip and palate. Continued on page 166 www.podiatrym.com JANUARY 2009 • PODIATRY MANAGEMENT 165 n g o in ti u a n c ti u Ectrodactyly... n d o E C al ic ing as blephoritis, corneal scar - d e ring, recurrent erosions, ble - M pharospasm, dry eye, and photophobia. Genitourinary system defects include hypospadias, hydronephrosis, renal age - nesis, and renal duplicity. Both deafness and mental retardation are also associat - ed with EEC syndrome. The clinical ex - pression of the defects associated with EEC is very diverse, ectodermal dysplasia Figure 2: Patient exhibiting ectrodactyly occurring 100%, lachrymal duct alter - deformity of the right foot and multiple ations 70-96.5%, ectrodactyly 78-88%, Figure 1: A classic presentation of pedal syndactilizations of the left foot. ectrodactyly. cleft lip/palate 58-88%, urinary alter - ations 15-55%, deafness 8-28%, and lidimide syndrome and Nager acrofa - mental retardation 1-16%. The inci - cial dysostosis; the fourth digit in con - dence of EEC is 1:190,000 live births. genital hypothalamic hamartoblas - toma polydactyly syndrome. Tripha - Other Syndromes langeal thumbs have been associated Other syndromes associated with ec - with ectrodactyly in a rare autosomal trodactyly include Carpenter’s syn - dominant syndrome. The combina - drome (acrocephalopolysyndactyly type tion of polydactyly and oligodactyly II), DeLange syndrome (multiple con - has been observed with both genetic genital anomaly/mental retardation and teratogen induced malformations (MCA/MR) disorder), Goltz syndrome in experimental animals. Figure 4: Postsurgical correction of ec - trodactyly. Presurgically, the corrected (focal dermal hypoplasia (FDH) disor - In Thalidomide embryopathy, the foot was too wide to fit into shoes. der), Jarcho Levine syndrome (spondy - polydactyly always occurs on the lothoracic dysplasia (STD) and spondy - hands with a reductional abnormality The anomaly was also seen in the locostal dysostosis (SCD) disorder), and involving the feet. Autosomal reces - Talaunda tribe from eastern Zimbabwe Miller syndrome (post-axial acrofacial sive syndromes involving ectrodacty - and Botswana. The Talaunda migrated dysostosis). Raas-Rothschild, et al. de - ly have been described in a closed is - from eastern Zimbabwe and may have scribed a syndrome of ectrodactyly, land population in Japan and in Mid - been of the same origins as the Wado - short stature, mental retardation, sen - dle Eastern cultures where marriage ma. In 1979, a magazine reported a sorineural deafness and abnormal faces. between first cousins is encouraged. group of at least 100 “ostrich footed” Limb-reducing defects that can be men. Recent studies have found three associated with ectrodactyly include Embryology and Genetics families of affected individuals among aplasia and hypoplasia of the tibia or these tribes and concluded that the pre - fibula (i.e., Volkmann syndrome). This Ectrodactyly in Africa vious tales of hundreds of ostrich-footed distal extremity reduction may occur In 1770, Jan Jacob Hartnick, a direc - persons belong in the realm of fantasy. concurrently with normal formation of tor of the Dutch East India Company, the proximal limb segment. Ectrodacty - made a reference to a touvinga or two- Embryology ly has also been found in patients with fingered tribe from Dutch Guyana in Human limbs develop from interac - aplasia cutis congenital and epidermol - South America. They were slaves who tions between limb ectoderm and ysis bullosa. Pedal ectrodactyly, without exhibited ectrodactyly, brought over mesoderm. An important embryonic similar upper extremity deficits, occurs from Central Africa. In the 1960’s, news - somite-somatopleural relationship pre - in 10% to 50% of cases of trisomy.(18) papers published interviews with unim - cedes the emergence of the limb bud Syndromes involving both poly - peachable witnesses who saw the phe - during the fourth week of gestation. dactyly and ectrodactyly have been nomenon in Africa. Gelfland, et al., in The lower limb buds develop as lateral described with the same digit usually 1974 investigated a Wadoma tribesman thickenings of the somatopleure. At the involved (absence or duplication); the from the Zambezi valley of Zimbabwe. fifth week, vertebrate limb buds develop thumb in Fanconi anemia, Tha - He was diagnosed as having “lobster a thickened epithelium at their distal claw” defor - tips. This apical ectodermal ridge (AER) mity of both functions as a principle inducer of axial feet. Two of limb elongation. The AER is required for his cousins progressive specification of mesodermal were affect - limb parts and promotion of axial ed and the growth through influencing cell divi - condition sion. The ridge also protects subridge was thought mesodermal cells from necrosis during to be auto - the active period of limb development. somal domi - The deep midline cleft, character - Figure 3: Blauth and Borisch radiological classification of pedal ectrodactyly. nant. Continued on page 167

166 PODIATRY MANAGEMENT • JANUARY 2009 www.podiatrym.com M C e o d n i t excess of afflicted male offspring metatarsals (Figure 3). ca in Ectrodactyly... l u Ed in through paternal transmission. In one Grade I: Five completely u g c istic of ectrodactyly, is caused by the study, a Pakistani kindred comprising normal metatarsals. Total or par - at io absence of one or more rays and toes. seven generations and 36 members with tial aplasia of toes 2 to 5, but usual - n The cleft formation begins at the 2nd the split-hand/split-foot anomaly, the ly with the involvement of toes 2 and or 3rd ray and proceeds from the dis - full expression of the trait, monodacty - 3. Occasionally cross-bone present. tal to the proximal aspects and trans - lous or split hand and split foot, mainly Grade II: There are five metatarsals, versely from the tibial to the fibular of the lobster-claw type, was present in but they are partially hypoplastic or side of the foot. The defects are al - 33 males and 3 females. Other females synostotic with other metatarsals or ways greater distally than proximally. showed a distinctly milder expression of phalanges. The second or third ray is al - There may be associated syndactyly of the trait, usually in the form of partial ways affected. At least one toe is absent. the remaining digits. A defect in the syndactyly, metacarpal and phalangeal Grade III: There are only four AER is suspected to be the initiating hypoplasia and malformation. metatarsals. Number 2 or 3 is always factor in this pattern of development. The etiology of the principle mal - missing and the other is hypoplastic. formations of EEC has been established Grade IV: There are only three Genetics as an autosomal dominant alteration metatarsals. Numbers 2 and 3, or 3 Ectodactyly is frequently bilateral in the long arm of chromosome 7 at and 4 are absent. Toes 2-4 are absent. and can be autosomal dominant or q21.2-q21.3 with variable penetrance. Grade V: The “Lobster-claw” genetically heterogenous. The gene re - Four other chromosomes have been as - foot. Complete absence of second, sponsible for the inheritance of this sociated with this syndrome including third, and fourth rays. condition has been mapped to the Xq26, 10q24, 3q27 (TP63), and 2q31. Grade VI: Monodactylous cleft foot long arm of chromosome 7 at q21.3- Ectrodactyly has also been asso - with only the fifth metatarsal and toe. q22.1, an area implicated as important ciated with trisomy 18. in normal human limb development. Biomechanics Ectrodactyly is an unusual disorder Classification In an anatomic study of a case of ec - in that it displays several genetic phe - Blauth and Borisch introduced a trodactyly, congenitally short limb, and nomena including variable expressivity, classification of six groups of ectro - club foot, the absence of lumbrical and reduced penetrance, and segregation dactyly of the foot based on the re - extensor digitorum brevis muscles was distortion. Variable expressivity is the ontgenographic number of retained noted. The function of the extensor digi - phenomenon in which expression of a torum brevis during midstance is to sta - disease may differ considerably among bilize the toes at the metatarsopha - individuals who carry the same gene langeal joint and resist the weak plantar- mutation. One individual may have in - flexory force of the flexor digitorum volvement of both of the hands and longus during midstance. The lumbri - feet, while another member of the same cals extend the proximal interpha - family may have only one affected langeal joint and distal interphalangeal limb. An isolated family report studied joint during propulsion. During mid - six generations and found progressive stance, as the flexor digitorum longus increase in the severity and extent of in - contracts to help decelerate the tibia and volvement in the later generations. subtalar joint, the extensor digitorum Penetrance is the probability that a brevis prevents flexion at the metatar - gene will have any phenotypic expres - sophalangeal joint while the lumbricales sion at all. Reduced penetrance is the extend the proximal interphalangeal case in which an individual carries the joint and distal interphalangeal joint. defective gene but fails to express any Figure 5: Presurgical roentgenogram of The absence of these muscles could phenotypic abnormalities. Ectrodactyly foot in figure 4. lead to clawing of the toes and forefoot of the hand and foot is re - instability. ported to be approximate - Whenever toes ly 70% penetrant. The are missing, whether third genetic phe - it is from amputation, nomenon is genetic dis - toe transplant surgery tortion. Alleles, or alter - to replace missing fin - nate forms of a gene (all gers, or ectrodactyly, a organisms have two alle - filler or buttress les for each trait), typically should be provided. segregate randomly and Without buttressing, therefore, there should be hallux valgus and no excess of either sex be - subluxations of lesser coming afflicted on trans - digits may occur. If mission of a gene. the second toe is However, in the many Figure 6: Postsurgical roentgenogram of foot Figure 7: Ectrodactyly de - missing, a bunion cases of ectrodactyly stud - in figure 4. Note the use of metatarsal os - formity of the left foot in may progress rapidly ied, there was an obvious teotomies to narrow the foot. an 11-year-old male. Continued on page 168 www.podiatrym.com JANUARY 2009 • PODIATRY MANAGEMENT 167 n g o in ti u a n c ther forefoot structural de - posals for a new classification ti u Ectrodactyly... n d based on roentgenographic o E formation must also be in - C al ic because stage 2 in the develop - cluded. A toe buttress man - morphology. Clin Ortho (1990) d e ment of a bunion is bypassed, lead - ufactured in the office from 258: 41-48. M ing to a stage 3 or 4 bunion deformity. a silicone putty compound 3. Caldwell BD. Genetics of split hand and split foot. J Am may be used as a temporary Podiatr Med Assoc (1996) 86(6): Approach to Management spacer, or if deemed appro - 244-248. The feet of patients with ectrodact - priate, as sole management 4. Caselli MA, Rubenstein lyly are usually functional, and ambu - for the least severe cases. It D. Pedal ectrodactyly: a lation is not a problem. The inability should be anchored on a biomechnical approach to to fit into normal footwear is the most flanged toe buttress running management. J Foot Ankle Surg common problem. Bursitis and painful under the existing toes. (1995) 34 (2): 215-219. callosities may develop as a result of Latex prostheses may be 5. Cruveilhier J. Anatomic the bony deformities and associated constructed to plaster casts. Pathologique du Corps Hu - abnormal distribution of weight. The Other alternatives include main, vol. 2. Paris: Balliere; 1842. p. 38. more severe forms of ectrodactyly can the use of a shoe insert con - Figure 8: Roengtgeno- 6. Drennan JC. Congenital cause gait problems such as instability structed of Plastizote or lam - deformities of the foot and during the propulsive phase. Ideal b’s wool, or a custom-mold - gram of patient’s left foot with absent third ankle. In Myerson MS (ed.). treatment would bring the size of the ed shoe with a spacer. toe and syndactyly of Foot and Ankle Disorders. foot into the normal range, fill the the fourth and fifth toes. Philadelphia, W.B. Saunders cleft, correct the secondary deformi - Case Presentation Company, 2000. pp 645-657 ties, and maintain good function. An 11-year-old white male present - 7. Farrell HB McD. The two-toed Wado - Surgical criteria for ectrodactyly can ed with a chief complaint of absent ma-familial ectrodactyly in Zimbabwe. SA include the inability to fit into shoes and third and fourth toes, and a wide fifth Med J (1984) 65:531 the elimination of discomfort. Surgical toe of his left foot (Figure 7). His right 8. Giorgini RJ, Capa CJ, Potter GK. Two stage surgical correction of cleft foot. A seven- intervention, if deemed necessary, foot was normal. The patient was cur - year follow-up of one case. J Am Podiatr should be offered to the patient at a very rently having no problem fitting into Assoc (1985) 75:481 early age to avoid further pathological conventional shoe gear and was in no 9. Helal A, Perry T, Ogden JA, Greene TL. changes that can occur over time. There discomfort. His mother was concerned Six generations of a family with multiple limb is no clearly defined surgical technique, about the curling of his most lateral deficiencies. J Pediatr Orthop (1993) 13:210. though the surgical options that are de - toe, which she claimed had been get - 10. Kelman GJ, Aronoff RC. Ectrodacty - scribed generally agree on resection of ting worse over the past year. She was ly-ectodermal dysplasia-clefting syndrome. J the rudimentary elements, osteotomies also concerned about possible future Am Podiatr Med Assoc (2000) 90(9): 460-464. at different levels, syndactylization, problems with the deformity. 11. Libbie JC, Derk FF, Nardozza AJ. Ec - desyndactylization, hammertoe, and The patient’s past medical history trodactyly: a unique case presentation. J Am Podiatr Med Assoc (1996) 86(8): 398-400. hallux valgus surgery (Figures 4, 5, 6). was unremarkable with no known al - 12. Pena DA, Nova AM, Pena JA, Ruiz Biomechanical management, ide - lergies and no medications. There was SH. Cleft foot and ectrodactyly-ectodermal ally, should consist of a foot orthosis, no family history of a similar prob - dysplasia-cleft lip/palate syndrome. Review of the elements of which should in - lem. The birth history was unevent - the literature and report of two new cases. clude: a posterior and central stabiliz - ful. Vascular and neurological find - The Foot (2004) 14: 221-226. ing component to control the move - ings were within normal limits. 13. Raas-Rothschild A, Aviram A, Ben ments of the subtalar joint; an anteri - Roentgenograms revealed the ab - Ami T, Berger I, Bat-Miriam Katznelson M, or component with a balancing effect sence of the distal, middle, and most of Goodman RM. Newly recognized ectrodacty - to facilitate propulsion, stabilize the the proximal phalanx of the third toe, ly/deafness syndrome. J Craniofac Genet Dev front of the foot, and cushion the with syndactylization of the fourth and Biol (1989) 9:121. 14. Von Walter P. Ueber die exarticula - first and fifth metatarsal heads. fifth toes of his left foot (Figure 8). The tion der finder mit ihren mittelhandbein aus A filler for the cleft to impede fur - treatment plan was to fabricate a pair of den handwurzelgelenken. J Chin U Augen- leather laminate orthoses from a neutral Heilkunde. (1829) 43: 1202. impression cast of his feet. An accom - modative spacer was fitted on the left Dr. Caselli is Staff orthosis to accommodate for the space Podiatrist at the created by the deformity, and to act as a VA Hudson Val - buttress for the lateral digit, reducing its ley Health Care tendency for adductovarus curling (Fig - System in Mon - ure 9). The patient was fitted with the trose, NY. and is orthoses and tolerated them well. I an Adjunct Pro - fessor at the New York College of References Podiatric 1. Ahmad M, Abbas H, Haque S, Flatz G. Medicine and an X-Chromosomally inherited split-hand/split Adjunct Professor at Ramapo College of Figure 9: Custom orthoses fabricated for foot anomaly in a Pakistani kindred. Hum New Jersey. He is Former Chairman, Divi - patient with filler to accommodate for Genet (1987) 75:169-173. sion of Orthopedic Sciences and Director, ectrodactyly deformity. 2. Blauth W, Borisch NC. Cleft feet: pro - Department of Pediatrics at NYCPM

168 PODIATRY MANAGEMENT • JANUARY 2009 www.podiatrym.com M C e o d n i t ca in l u Ed in EXAMINATION u g c at io n See answer sheet on page 171 .

1) Which one of the following 7) A defect in the AER can Blauth and Borisch Grade I terms is not a synonym for pedal result in: ectrodactyly? ectrodactyly? A) Kidney abnormalities A) Five completely normal A) Cleft foot B) Cleft foot metatarsals B) Skew foot C) Deafness B) Partially hypoplastic C) Lobster foot D) None of the above metatarsals D) Crab-claw foot C) At least one absent toe 8) The gene that is responsible D) Classic “lobster-claw” 2) What is the incidence of cleft for the inheritance of ectro - foot appearance foot? dactyly has been mapped to A) 1:500 live births chromosome ______. 12) The main characteristic of B) 1:10,000 live births A) 5 Blauth and Borisch Grade III C) 1:90,000 live births B) 7 ectrodactyly is: D) 1:190,000 live births C) 12 A) At least one absent toe. D) 18 B) Only four metatarsals. 3) Which one of the following is C) Monodactylous cleft not part of the EEC syndrome? 9) Genetically, variable expres - foot. A) Ectodermal dysplasia sivity is a phenomenon in D) Only three metatarsals. B) Chondromalasia which the expression of a C) Ectrodactyly disease: 13) What Blauth and Borisch D) Cleft lip A) Appears the same in all group represents the classic who have the same gene “lobster-claw” foot? 4) The clinical expression of mutation. A) Grade I ectrodactyly in EEC syndrome B) May be radically different B) Grade III presents in _____% of cases. in all who have the same C) Grade V A) 8-28 gene mutation. D) Grade VI B) 15-55 C) Only occurs in female C) 78-88 family members. 14) A foot with an ectro - D) 100 D) Only occurs in male fami - dactyly defect was found to ly members. have absent extensor digito - 5) Ectrodactyly is an associated rum brevis and lumbrical finding in which one of the 10) Which one of the following muscles. Which one of the following trisomy defects? is most correct concerning the following is most likely to re - A) Trisomy 8 inheritance of ectrodactyly? sult from the absence of B) Trisomy 13 A) It tends to skip these muscles? C) Trisomy 18 generations. A) Weak push-off phase of D) Trisomy 21 B) There is an excess of gait afflicted males. B) Hallux valgus 6) Embryologically, what is the C) There is an excess of C) Clawing of toes function of the apical ectodermal afflicted females. D) Equinus gait ridge (AER)? D) It becomes less severe in A) Induce axial limb elongation. later generations. 15) Which one of the B) Retard digital differentiation. following has been found to C) Responsible for nail growth. 11) Which one of the following be the main problem of pa - D) None of the above. is the key characteristic of Continued on page 170 www.podiatrym.com JANUARY 2009 • PODIATRY MANAGEMENT 169 n g o in ti u a n c ti u n d o E EXAMINATION PM ’s C al ic ed (cont’d) M CPME Program tients with ectrodactyly? Welcome to the innovative Continuing Education A) Plantar callosities Program brought to you by Podiatry Management B) Inability to fit in shoes Magazine . Our journal has been approved as a C) Foot pain sponsor of Continuing Medical Education by the D) Inability to ambulate Council on Podiatric Medical Education.

16) Which one of the following is the most com - Now it’s even easier and more convenient mon gait problem in severe forms of ectrodactyly? to enroll in PM’s CE program! A) Instability during propulsion You can now enroll at any time during the year B) Inversion sprains at heel contact and submit eligible exams at any time during your C) Midstance pronation enrollment period. D) Drop foot PM enrollees are entitled to submit ten exams published during their consecutive, twelve–month 17) Absence of the second toe promotes which enrollment period. Your enrollment period begins one of the following deformities? with the month payment is received. For example, A) Hammertoes if your payment is received on September 1, 2006, B) Hallux valgus your enrollment is valid through August 31, 2007. C) Metatarsus adductus If you’re not enrolled, you may also submit any D) None of the above exam(s) published in PM magazine within the past twelve months. CME articles and examination 18) Which of the following represents ideal questions from past issues of Podiatry Man - treatment for pedal ectrodactyly? agement can be found on the Internet at A) Normalize size of foot http://www.podiatrym.com/cme. Each lesson B) Fill the cleft is approved for 1.5 hours continuing education con - C) Maintain good function tact hours. Please read the testing, grading and pay - D) All of the above ment instructions to decide which method of partici - pation is best for you. 19) Which of the following is a consideration for Please call (631) 563-1604 if you have any ques - surgical intervention in the treatment of pedal tions. A personal operator will be happy to assist you. ectrodactyly? Each of the 10 lessons will count as 1.5 credits; A) Inability to fit into shoes thus a maximum of 15 CME credits may be B) Elimination of discomfort earned during any 12-month period. You may se - C) Age of patient lect any 10 in a 24-month period. D) All of the above The Podiatry Management Magazine CME 20) Which one of the following orthotic modifica - program is approved by the Council on Podiatric tions is needed to prevent forefoot structural Education in all states where credits in instruction - deformities such as hallux valgus in Grade II or al media are accepted. This article is approved for above type ectrodactyly? 1.5 Continuing Education Contact Hours (or 0.15 A) Rearfoot varus posting CEU’s) for each examination successfully completed. B) Forefoot varus posting C) Heel lift D) Toe filler Home Study CME credits now See answer sheet on page 171 . accepted in Pennsylvania

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A r

______dition Deg Ad ABCD ______ABCD ABCD ABCD ABCD ABCD ______11. ABCD 12. ABCD 13. ABCD ______14. ABCD 15. 16. 17. 18. ______19. 20. ______ABCD ABCD ABCD ABCD ABCD ______ABCD 1. ABCD 2. ABCD 3. ABCD 4. ABCD 5. 6. 7. 8. 9. 10.