Congenital Anomalies of the Upper Extremity: Etiology and Management

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In addition, I present a modified classification system and provide treatment principles. As our understanding of the etiology of congenital differences of the upper extremity increases and as experience of treating difficult cases accumulates, even an ideal classification system and optimal treatment strategies will undoubtedly continue to evolve.

The primary purpose of a classification system is to increase communication about the specific features of a condition between physicians, and provide the basis for discussion and comparison of information regarding epidemiology and treatment results. Therefore, an ideal classification should reflect the full spectrum of morphologic abnormalities and should be simple and logical for physicians to remember and to use, and would also incorporate etiology, guide treatment, and provide prognosis, 4 , 5 which is still unavailable in congenital differences of the upper extremity.

Various classification systems are divided according to their basis of foundation; descriptive, anatomic or topographical, embryologic, teratologic sequencing, genetic, and different combinations of these. Descriptive classification is based on findings of deformity, such as radial clubhand, which describes a radially deviated hand looking like a golf club, or camptodactyly, meaning a flexed finger.

Although this system is intuitive and commonly used as a diagnosis in clinical practices, it depends on the confusing Greek and Latin terminology and has little scientific value. A more developed system is the anatomic or topographical classification based on anatomic findings or the extent of involvement. Syndactyly is a kind of descriptive classification for a finger deformity, but complete, incomplete, simple or complex syndactyly is an anatomic classification and indicates the extent of involvement.

This can guide treatment recommendations and sometimes prognosis. Similarly, most sub-classifications for various diagnostic conditions are based on anatomy, such as the Wassel classification for thumb polydactyly which is based on the level of thumb bifurcation. They divided limb deficiencies into terminal and intercalary, and each into transverse and paraxial. The anatomic classification system was further developed into embryologic classification by Swanson et al.

In the Swanson classification, each limb malformation is classified according to the most predominant anomaly and is placed into one of seven categories Table 1. This concept was based on recent embryologic studies supporting a common etiology for central polyactyly, syndactyly, and typical cleft hand. Congenital differences can be classified according to their severity of expression, which is called teratologic sequence classification. Although this classification is not comprehensive of all anomalies, this system is often used for classification for specific conditions, as the extent of pathology can determine function and guide treatment.

For example, teratologic sequencing of thumb hypoplasia as used in Blauth and Manske's 5 category system classifies thumb hypoplasia according to the severity of hypoplasia and is helpful for directing the treatment Table 2. Classification of the Hypoplastic Thumb 15 , Finally, there can be a classification system based on particular genetic or molecular abnormalities. For instance, defects in the HOXD13 have been implicated in several common congenital hand differences such as syndactyly and polydactyly. However, it has been criticized for its inherent limitations because it attempts to incorporate etiology into morphologically-based classificiation, 4 , 14 and is difficult to classify complex cases, especially with the complex spectrum of cleft hand and symbrachydactyly.

The IFSSH classification system separates "Failure of formation" from "Failure of differentiation" on the basis of timing of the causative insult, but creates separate groups for "Duplication," "Overgrowth," and "Undergrowth," although duplication is a kind of failure of formation and "Overgrowth" and "Undergrowth" are examples of differentiation or development failure failure of differentiation. Cleft hand can be divided into typical and atypical.

A typical cleft hand central deficiency is not associated with forearm anomalies unlike radial or ulnar deficiencies, and is usually bilateral, familiar, and associated with polydactyly, syndactyly and clefting of the feet, while atypical cleft hand or symbrachydactyly is usually unilateral, not hereditary, and not associated with foot anomalies, suggesting different etiologies for similar conditions. However, in the current modification of the IFSSH classification, symbrachydactyly is brought back to "Failure of formation" category, 19 , 20 highlighting the fact that the IFSSH classification is truly morphological and not etiologically based.

I suggest a new classification for congenital differences of the upper extremity, which is modified after the current IFSSH classification system Table 3. This classification is also an embryologic classification, and is based on the concept that an organ develops and matures through three distinct stages, which are formation, separation, and growth, and each stage can have two types of control failure, which are early control failure resulting in under-formation, under-separation, or under-growth and late control failure resulting in over-formation, over-separation, or over-growth.

These 6 control failures have three morphological types, which are longitudinal, transverse, and mixed. By having these morphological types for each control failure category, my classification system makes it easy to intuitively classify complex deformities. Concerning the "Generalized skeletal abnormalities" in the IFSSH system, my system classifies the conditions as "Structural failure" as opposed to "Control failure," because those anomalies have abnormal tissue from structural or cellular failures while conditions of "Control failure" have normal tissue quality.

Therefore, congenital differences of the upper extremity can be first divided into "Control failure" with normal tissue and "Structural failure" with abnormal tissue , and then the "Control failure" can be further classified into "Formation failure," "Separation failure," and "Growth failure," and the "Structural failure" into "Generalized structural failure" and "Localized structural failure.

Furthermore, by placing "over-formation" and "under-formation" under the large category of "Formation failure," this system removes the redundant category of "Duplication," which is also embryologically a kind of formation failure. In addition, this classification system removes constriction band syndrome from the 7 categories of the IFSSH system and places it under the category of "Formation failure" "transverse type under-formation" , because the main pathology of distal tissue agenesis or coalescence is a vascular compromise at some point of intra-uterine organ formation.

The advantage of my classification is that physicians can intuitively classify most of the congenital anomalies because the 3 stages formation, separation, growth , the 3 types longitudinal, transverse, and mixed and the 2 prefixes under-, over- are anatomically or morphologically straightforward, although the system is based on embryology. For example, the complex symbrachydactyly, which has mixed longitudinal and transverse deficiency by the anatomical classification, and can be simply classified into "Mixed type under-formation" by my classification system, successfully including both anatomical and embryological concepts.

In my experience, most of the congenital differences could be categorized reliably with some reasonable explanations. In addition, my classification system can categorize some disease entities, which have not been included in any classification schemes previously, such as congenital laxity of joint, which is not included in the IFSSH system, can be classified as "Transverse type over-separation. Lastly, my classification system can logically and intuitively guide the treatment principle for each category, such as "Under-formation" needs lengthening or transplantation , and "Over-formation" needs resection or amputation ; "Under-separation" requires separation or division , and "Over-separation" requires reduction or arthroplasty or fusion ; "Under-growth" needs augmentation and "Over-growth" needs resection or debulking.

Treatment of upper extremity congenital differences should be initiated as soon as possible, because most anomalies tend to change with time and the human body is considered to maintain skeletal remodeling power until two to three years of age. Cases of under-formation require 'lengthening or transplantation,' because even the most advanced medical technologies cannot create a simple nail plate. Accordingly, even simple cases of under-formation cannot be cured satisfactorily. For longitudinal under-formations, such as, radial deficiency radial clubhand , realignment procedures including osteotomy or tendon transfer are necessary to improve function.

Hypoplastic or absent thumbs can be treated by pollicization a type of transplantation from the index finger , and recently bone lengthening and living tissue transfer have been used to replace an absent bone, joint, or muscle. In cases of transverse under-formation, such as, congenital amputation, digit creation using an autograft or allograft can be attempted. Having created a small digit, lengthening procedures can improve function and cosmesis. Autogenous bone grafting has the associated limitations of donor site morbidities and of a lack of available bone. Toe transplantation or proximal fibular transplantation can create a digit with growth potential, but the techniques involved are demanding and have a measurable risk of failure.

Allografts introduce problems of rejection, and these patients may require lifelong immunosuppressive therapy. Over-formation can often be treated satisfactorily by simply removing the redundant tissue 'resection or amputation'. Sometimes additional procedures are necessary, such as, tendon realignment, corrective osteotomy to realign residual digit, resection arthrodesis to reduce an extra-bone and joint in cases of hyperphalangism, or combining two small thumbs to create a balanced, normally sized thumb.

Conditions of under-separation, such as symphalangism longitudinal , syndactyly transverse , and carpal coalition mixed require 'separation,' but these conditions are usually combined with incomplete or deformed bones, joints, and muscles that need additional procedures. Coalition can be defined as a condition whereby an under-developed joint becomes a syndesmotic or synchondrosic joint rather than a synovial joint. Because the creation of a normal synovial joint is not possible, separation means making a pseudarthrosis to gain mobility. However, such newly created pseudarthroses have problems of reunion, instability, and inadequate motion, since soft tissues around these joints are also inadequate.

Sometimes, osteotomy is necessary to obtain a more functional position. In cases with under-separations of soft tissues, such as, those encountered in camptodactyly, causative tissues abnormal skin, pulley, fascia, or tendon that are not critically required for function must be removed. Conditions of over-separation, such as congenital dislocation or laxity, are treated by 'reduction or stabilization. When a joint has dysplasia or subluxation, attempts are made to make a more stable joint by intra-articular or per-articular osteotomy, as the joint tends to develop early osteoarthritis or become completely dislocated.

When reduction is impossible or too late, arthroplasty or fusion can improve function. Under-growth is when a portion of an extremity is undersized but near normal functionally, and requires 'augmentation. When the required length is within cm, osteotomy and intraoperative distraction with interpositional strut bone grafting and internal fixation provides a straightforward option, and when the required length exceeds 2 cm, external fixation and gradual lengthening can be performed.

Overgrowth needs 'reduction or debulking. Sometimes bones and joints are deformed, and muscles and tendons are abnormal. The treatment goal is to decrease length and volume to obtain levels of function and appearance that are similar to those of normal side. However, decreasing size effectively is difficult and postoperative tissue necrosis is common, and thus, in most cases results are less than satisfactory. The primary goals of the treatment of generalized structural failure are to extend life expectancy and to prevent progression of the anomaly. In cases with a hormone or enzyme deficiency, hormone or enzyme replacement therapy can achieve the treatment goal.

However, in most cases, the causes are unknown and medical treatment is rarely effective. If the anomaly is severe enough to impair walking or daily activities, a child's quality of life can be improved by treatments, such as, bracing, cast immobilization, or surgery, and in cases with a localized structural failure, correction of the localized anomaly alone may achieve its long-term correction. However, the molecular events that underlie such abnormalities have not been elucidated.

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However, these results were not reproduced in other centers 15 Figure 3. The child's growth makes it difficult to perform centralization or radialization of the carpus in only a single surgical procedure. Therefore, in these cases, pre-centralization of the carpus by means of external fixators is necessary 15 , The age from which pre-centralization is necessary is debatable, but the present author considers that it is necessary from the age of 18 months onwards.

In situations in which reduction is difficult, there is the possibility of performing total or partial proximal carpectomy and promoting transfer of the radial extensors of the carpus to the extensor carpi ulnaris EUC , if this is present 13 , 14 , 15 , For children over the age of 18 months at our clinic, we perform the wrist correction as two procedures. In the first, we perform pre-centralization using single-plane external fixators. The parents are instructed to promote distraction at a speed of 0.

After an average of four weeks, we remove the external fixators and perform centralization of the carpus over the ulna. The operation is performed by means of a bilobulated dorsal incision 13 and a longitudinal incision in the retinaculum and joint capsule. Whenever there are radial extensor tendons present, we transfer them to the ulnar portion of the carpus. In all cases of difficulty in achieving the ideal positioning of the carpus over the ulna, we have no hesitation in performing total or partial proximal carpectomy.

The hand and wrist are fixed using one or two intramedullary 1. We do not consider it necessary to place wires inside the metacarpals. Detail of the bilobulated incision in cases of radial club hand A. Transfer of the radial extensor tendons B and C. A variety of complications have been described, such as infection, skin flap distress and breakage of the Kirschner wires Over the long term, practically all the cases partially relapse 13 , 14 , 15 , It should be borne in mind that even with this relapse, which the parents need to be made aware of, the final result is an improvement in relation to the initial deformity Figure 6.

Pre-centralization and after the operation with orthosis. Note partial recurrence of the angling. Controversy persists in relation to treatments for radial club hand done during adolescence and in cases of relapse. Stretching of the ulna and correction of the residual deformities can be achieved by means of osteotomy and external fixators In cases of significant angling or short forearms, the present author indicates surgical treatment with external fixators, even among adolescents.

Stretching and subsequent osteotomy to correct a deformity in a year-old female patient. Angling of 80o in a year-old male adolescent who underwent dome-shaped osteotomy with external fixation. The cleft deformity is characterized by absence of the central rays the second, third and fourth rays , which become differentiated at times differing from when this occurs for the first and fifth rays.

Classically, such deformities are divided into typical and atypical 3 Table 3. Differences between typical and atypical cleft hand 3 , The theories involving the typical and atypical forms of cleft hand differ. While the typical form is related to possible fusion of rays, the atypical form is thought to be one of the manifestations of the teratological sequence of brachysyndactyly, occurring through necrosis of the mesenchymal tissue. Thus, neither of the two forms would be correctly classified as a failure of formation 3 , Manske and Halikis classified cases of cleft hand based on the contracture of the first commissure 15 , 24 :.

Syndactylized web — First commissure fused; syndactyly between the thumb and second finger. Merged web — First commissure included in the cleft; second finger does not exist; thumb unstable. Absent web — Absence of the commissure because of absence of the thumb and the second finger. The treatment has two objectives: to close the cleft and to reconstruct the first commissure These procedures involve skin flaps, reconstruction of the natatory ligament using digital pulleys, zetaplasty, osteotomy, resection of hypoplastic fingers or transverse bones and transposition of metacarpals in the various techniques described, including Miura and Komada, and Snow and Littler 10 , 15 , 22 , Because of the diversity of deformations, each case requires individual surgical planning Figures 9 A-F and 10 A-E.

Conservative treatment is reserved for very severe cases, in which there is generally great functional adaptation 24 and for patients with severe cognitive deficit, which impedes adequate rehabilitation. Ulnar club hand is a set of abnormalities that affects the ulnar margin of the upper limb but also affects structures on the radial margin It is four to ten times rarer than radial club hand and associations with malformations of internal organs or systemic syndromes are rare 3 , There is an association with other skeletal malformations: congenital short femur, phocomelia, hemimelia, fibular hemimelia and congenital scoliosis Since the radius is always present, there is support for the carpus.

The forearm is short and the elbow has diminished range of motion or radiohumeral synostosis The most accepted classification is the modified Bayne system 15 :.

Etiology and Management

Cole and Manske 15 classified ulnar club hand according to the abnormalities of the first commissure Figure 11 :. Narrowing of the first commissure, syndactyly between the thumb and second finger, thumb in the plane of the ulnar fingers, thenar hypoplasia or absence of extrinsic tendon function.

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Despite the large number of abnormalities, functioning is generally good 14 , Surgical procedures are more indicated for correction of deformities of the hand, such as syndactyly, and for reconstruction of the first commissure. In the forearm, osteotomy of the radius is performed in cases of large angular deformity or hyperpronation. Construction of single bones, in cases of distal absence of the ulna, can also be considered.

Resection of the radial head has been described, but this is not recommended because of the risk of destabilization of the elbow 15 , The authors declare that there was no conflict of interest in conducting this work. This article is available online in Portuguese and English at the websites: www. National Center for Biotechnology Information , U. Journal List Rev Bras Ortop v. Rev Bras Ortop. Published online Nov 4.

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Author information Article notes Copyright and License information Disclaimer. Received Jan 31; Accepted Feb Abstract This article, divided into three parts, had the aims of reviewing the most common upper-limb malformations and describing their treatments. Open in a separate window. Figure 1. Overgrowth a — limb b — macrodactyly V. Undergrowth Braquidactilia Braquissindactilia VI. Constriction band syndrome VII. Transverse Congenital amputations can occur at any level: Amelia — absence of a limb; hemimelia — absence of the forearm or hand; acheiria — absence of the hand; adactyly and aphalangia — absence of the fingers and phalanges Figure 2.

Krukenberg operation: Revisited. Longitudinal a. Phocomelia Phocomelia is defined as the absence of an intercalary segment. Radial club hand: dysplasia of the radius Radial club hand or congenital absence of the radius is a complex pre-axial deformity that affects not only the skeleton but also all of the pre-axial structures of the upper limb The classification most used for radial club hand is the system described by Bayne and Klug 13 , 14 Table 2 : Type I — Radius apparently normal, but shorter, since the distal epiphysis takes longer to appear and has lower potential for growth.

Table 2 Modified Bayne and Klug classification for radial club hand. Figure 3. Source: Vilkki SK.

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  7. Vascularized metatarsophalangeal joint transfer for radial hypoplasia. Sem Plastic Surg. Figure 4. Figure 5. Figure 6. Figure 7. Figure 8. Cleft hand The cleft deformity is characterized by absence of the central rays the second, third and fourth rays , which become differentiated at times differing from when this occurs for the first and fifth rays.

    Table 3 Differences between typical and atypical cleft hand 3 , Figure 9. Figure Ulnar club hand: dysplasia of the ulna Ulnar club hand is a set of abnormalities that affects the ulnar margin of the upper limb but also affects structures on the radial margin The most accepted classification is the modified Bayne system 15 : 1. The authors declare that there was no conflict of interest in conducting this work This article is available online in Portuguese and English at the websites: www. Congenital disorders: classification and diagnosis. Hand surgery. Chung MS. Congenital differences of the upper extremity: classification and treatment principles.

    Clin Orthop Surg. Upper-extremity congenital anomalies. Smith DW. Rev Neurocienc. Wong MW. Congenital hand anomalies. Principles of management. J Am Soc Surg Hand. Green's Operative Hand Surgery. Elsevier Churchill Livingstone; Philadelphia: Embryology of the upper limb.

    Congenital Limb Defect in Children

    J Hand Surg Am. Congenital hand differences: embryology and classification. Hand Clin. Mattar Junior R. Acta Ortop Bras. Singh G, Jain SK.

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    Krukenberg operation: revisited. Precision grip function after free toe transfer in children with hypoplastic digits. J Plast Reconstr Aesthet Surg. Radial club hand.

    Congenital Anomalies of the Upper Extremity Etiology and Management

    The growing hand. Diagnosis and management of the upper extremity in children. Mosby; London:

    Congenital Anomalies of the Upper Extremity: Etiology and Management Congenital Anomalies of the Upper Extremity: Etiology and Management
    Congenital Anomalies of the Upper Extremity: Etiology and Management Congenital Anomalies of the Upper Extremity: Etiology and Management
    Congenital Anomalies of the Upper Extremity: Etiology and Management Congenital Anomalies of the Upper Extremity: Etiology and Management
    Congenital Anomalies of the Upper Extremity: Etiology and Management Congenital Anomalies of the Upper Extremity: Etiology and Management
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