symbrachydactyly

Symbrachydactyly

Symbrachydactyly is a rare congenital hand defect that is characterized by failure of formation of fingers and presence of rudimentary nubbins (short fingers in which bones are missing or are smaller than normal) that include elements of nail plate, bone, and cartilage 1). Typically, the central digits are absent and the border digits are relatively spared, and syndactyly may be present (Figure 1) 2). The bones, muscles, ligaments and nerves of the hand are usually affected. The roots of the word are from the Greek “syn/sym” (joined), “brachy” (short) and “dactyl” (finger, digit).

Symbrachydactyly occurs in about one out of every 32,000 babies. It affects boys and girls equally.

Most cases of symbrachydactyly happen for no known reason and without any other abnormalities in the child. It isn’t thought to be inherited. In some cases, symbrachydactyly is an accompanying defect in a genetic syndrome called Poland syndrome, in which there is underdevelopment of the chest muscle (hypoplasia or absence of the pectoralis major) on one side of the body 3). In fact, Poland first described symbrachydactyly in 1841 4).

There are different levels of symbrachydactyly:

  • The thumb is essentially normal, but the remaining fingers are short and stiff and can be webbed (least severe).
  • Only the thumb or the thumb and little finger are present (moderately severe).
  • All the fingers are missing, and small skin stumps are located where fingers should have developed (most severe).

Many forms of symbrachydactyly are treated surgically. Initial surgery is usually done when the child is between 6 and 18 months old. Sometimes, a series of additional surgeries need to be performed over a period of years.

Treatment of symbrachydactyly varies from child to child. In some cases, no surgery or only minor skin and soft-tissue corrections are needed.

Figure 1. Symbrachydactyly hand

Symbrachydactyly hand

Footnote: A typical hand with symbrachydactyly.

[Source 5) ]

Symbrachydactyly classification

The International Federation of Societies for Surgery of the Hand has recently adopted the Oberg, Manske, and Tonkin (OMT) classification system 6), which incorporates current understanding of embryology and molecular biology. Under the previous International Federation of Societies for Surgery of the Hand system, symbrachydactyly was categorized as an undergrowth 7); in the OMT system 8), symbrachydactyly is categorized as failure of formation of the proximal-distal axis, which can involve the entire upper limb or the hand plate.

Several classifications of symbrachydactyly have been described. Blauth 9) refined Müller’s original concepts 10) into a classification system for symbrachydactyly that included 4 phenotypes:

  1. Short finger type
  2. Cleft hand type
  3. Monodactyly type: absence of digits 2 to 5, with the thumb present
  4. Peromelic type: adactyly with rudimentary nubbins.

Yamauchi and Tanabu 11) described a more elaborate classification of 7 types based on the morphological and radiographic bony deficiency, allowing for precise description of skeletal elements of the affected hand and extremity, but not providing guidance for treatment. Foucher 12) modified the Blauth classification to make it more useful in this regard, based on a series of 117 patients. The presence of a thumb, the stability of joints, and the patient-specific needs were used to recommend surgical treatment (see Table 1 and Figure 2).

Figure 2. Spectrum of symbrachydactyly

Footnote: The spectrum of symbrachydactyly as classified by Foucher: (a) type I, (b) type IIA, (c) type IIB, (d) type IIC, (e) type IIIA, (f) type IIIB, (g) type IVA, and (h) type IVB.

Note. A description of each type is listed in Table 1 below.

[Source 13) ]

Table 1. Foucher’s Symbrachydactyly Classification

TypeFeaturesThumbUlnar digitInterventions
IAll bones and digits present, brachydactyly and syndactylyNormalBones present, brachydactyly or syndactylySyndactyly release
IIA≥2 fingers. Normal thumb, hypoplastic fingersNormalHypoplastic, syndactylyNonvascularized toe phalanx transfers, ablation, or stabilization
IIBFunctional border digits, variable central nubbinsNormalPresent, variable hypoplasia and stabilitySurgery rarely indicated
IIC“Spoon hand,” thumb conjoined with hypoplastic ulnar digitsPresent (± stability)Hypoplastic, clinodactylyVariable
IIIAMonodactylyNormalAbsentVascularized toe-to-hand transfer
IIIBMonodactylyHypoplastic and/or unstableAbsentVariable, vascularized toe-to-hand transfer, thumb stabilization, thumb lengthening
IVAPeromelic, wrist mobilityAbsentAbsent
IVBPeromelic, no wrist mobilityAbsentAbsentSurgery not indicated
[Source 14) ]

Symbrachydactyly causes

The cause of symbrachydactyly is unknown, but vascular dysgenesis during fetal development (“subclavian artery supply disruption sequence”) is a leading hypothesis 15). Based on this hypothesis, isolated transverse terminal limb deficiencies are associated with interruption of the subclavian artery distal to the internal thoracic artery before a gestational age of 42 days, leading to a failure of outward limb growth and interdigital tissue degeneration. In support of this theory, a study of 8 patients with Poland syndrome showed decreased blood flow velocity in affected limbs, likely from a subclavian malformation 16).

Based on the current understanding of upper limb development, symbrachydactyly likely arises through disruption of the apical ectodermal ridge of the developing limb bud. The apical ectodermal ridge, a thickening of ectodermal cells at the distal end of the limb bud, directs proximal-distal limb development through a complex cascade of growth factors and genetic signaling, while controlling aspects of mesenchyme cell differentiation 17). In animal models, disruption of the apical ectodermal ridge and its signaling pathways causes transverse deficiencies, including symbrachydactyly 18).

Although limb development occurs in a proximal-distal direction, there may be some regenerative capacity of distal limb elements after a partial or complete insult to the apical ectodermal ridge that may result in the characteristic “nubbins” or rudimentary digits seen in symbrachydactyly 19).

Symbrachydactyly symptoms

Symbrachydactyly symptoms can vary widely. Symbrachydactyly is visible at, or shortly after, birth. Sometimes it is seen on ultrasound before birth. Your child’s fingers will be short and webbed. In severe cases, your child’s fingers will be small stumps of skin and soft tissue. Because of these differences, your child may have trouble using the affected hand. Normally only one hand is affected. Symptoms include:

  • Short fingers in which bones are missing or are smaller than normal (brachydactyly). Sometimes referred to as “nubbins.”
  • Missing fingers.
  • Fingers that are joined or webbed (cutaneous syndactyly).
  • Missing thumb or one that is shorter than usual.
  • Short bones in the wrist or arm.
  • Muscles, tendons and ligaments can be affected.

Symbrachydactyly diagnosis

Symbrachydactyly is apparent at birth and may also be visible before birth by ultrasound. In most cases, the underlying muscles, nerves, tendons, ligaments and bones of your child’s hand will be affected. Your doctor will use x-rays to look more closely at the underlying structure of your baby’s fingers and determine a course of treatment. If there are any other abnormalities, other x-rays or tests may be needed.

Symbrachydactyly is often confused with a hand disorder called constriction ring syndrome, but the two are different. The main difference between the two is that in symbrachydactyly the underlying structures of the hand, such as the muscles, nerves and bones, are usually malformed, while in constriction ring syndrome they aren’t.

Symbrachydactyly differential diagnosis

Confusion surrounding the definition of symbrachydactyly is due to variability in clinic presentation, including the amount of hypoplasia of the central digits, affected hand size, and the function of border digits. The term symbrachydactyly has been used to describe hand malformations that overlap with transverse deficiency, central deficiency, brachymetacarpia, brachyphalangism, and hypodactyly 20). Symbrachydactyly was previously called “atypical cleft hand” due to morphological similarities with central deficiency 21), but this terminology has been abandoned 22); central deficiency is an autosomal dominant condition in which the central rays are absent; it is usually bilateral and often associated with cleft feet. Other conditions in the differential diagnosis of symbrachydactyly include Apert syndrome, amniotic constriction bands, ulnar longitudinal deficiency, and hypodactyly (Table 2) 23).

Table 2. Differential diagnosis of Symbrachydactyly

SymbrachydactylyApert syndromeAmniotic constriction bandCentral deficiencyUlnar longitudinal deficiencyHypodactyly
OriginSporadicMutation, FGFR2SporadicHeritable, multiple lociGenerally sporadic, occasionally syndromicSporadic
Upper extremitiesUnilateralBilateral, complex syndactylyUsually bilateral, unilateral is rareGenerally bilateralUnilateralUnilateral
Lower extremitiesNot affectedAffectedAffected (constriction bands and talipes equinovarus)AffectedNot affectedNot affected
Thumb involvementLeast likely digit to be involved (peromelic and monodactylous forms)Commonly involved in complex syndactylyEqually likely to be involved as other digitsFirst web space commonly shallow/narrow. Thumb rarely suppressedLeast likely digit to be involved, but can be affectedLeast likely digit to be involved, but can be affected
Shape of hand defectU-shaped cleftCup likeAmputations common distal to bandsV-shaped cleftMissing ulnar-sided structures, smooth contours on handMissing terminal elements only, deficiency may be more severe at ulnar digits
Unique featuresRudimentary nubbins with ectodermal tissue. Metacarpals presentFacial features (craniosynostosis, acrocephaly)Visible scarring/depression from amniotic bandAbsent metacarpalsProximal structures (ie, elbow) more likely affected than wristMultiple shortened digits without terminal ectodermal elements

Symbrachydactyly treatment

Specific treatment for symbrachydactyly will be determined by your child’s doctor based on:

  • Your child’s age, overall health and medical history.
  • Your child’s tolerance for specific procedures or therapies.
  • Expectations for the course of the disease.
  • Your opinion or preference

The goals of treating congenital hand differences are to maximize function, normalize appearance, and help the child and family accept the difference to the extent that it cannot be “normalized” 24). Selection of a specific treatment for symbrachydactyly depends on the clinical and radiological findings, the ability of the child to meet developmental milestones and perform activities of daily living, and the expectations of the child and family regarding the appearance of the hand. Treatment is grounded in the framework of realistic functional goals, with a reasonable expectation that the treatment can achieve that goal.

Treatment may include (alone or in combination):

  • Corrective Surgeries
    • Surgery to divide webbed fingers
    • Bone transfer (phalangeal transfer): One bone from each toe is removed and placed into each of the short fingers. This lengthens the fingers and makes gripping objects easier. Removing bones from the toes will not cause problems with walking.
    • Distraction: A metal rod is placed in the transferred bones and slowly expanded to make the bones longer.
  • Occupational therapy
  • Physical therapy
  • Prosthesis
    • An artificial body part that can be used for cosmetic or functional purposes.

Nonoperative management

Function is classified according to the World Health Organization International Classification of Functioning and Disability 25). Activity, participation, and quality of life may be very close to normal for children with unilateral hand absence 26). Often the biggest challenge to the child and family is the psychological burden of appearing different to others 27).

Nonoperative interventions, such as therapy, prostheses, and orthotics, have been used to treat children with symbrachydactyly. An occupational therapist can help children with unilateral malformations master activities of daily life while increasing self-esteem and gaining independence 28).

Because they cannot provide sensation, prostheses have limited applications for children with unilateral conditions, especially when the affected side has wrist motion and/or at least one sensate digit that can assist the contralateral hand with bimanual activities. Opposition paddles or partial hand prostheses may be helpful for patients with a stable monodactyly because they provide a surface to pinch against (Figure 3). Customized passive hand prostheses may provide relief from unwelcome questions and comments. As technology improves so that components can be made smaller, less expensive, and more durable, myoelectric partial hand prostheses may become useful to children with symbrachydactyly.

Peer groups and hand camps may improve the child’s quality of life more than medical or surgical treatment 29). Camps exist for children with various chronic illnesses and congenital conditions; these have been shown to provide short-term psychosocial benefits, including improved social interaction and acceptance 30). Camps for children with congenital hand differences include Camp Winning Hands in Livermore, California (https://www.shrinersinternational.org) and Hand Camp in Meridian, Texas (https://scottishriteforchildren.org/plan-your-visit/therapeutic-sports-recreation/camps).

Figure 3. A patient with symbrachydactyly wearing an opposition paddle

symbrachydactyly wearing an opposition paddle

Symbrachydactyly surgery

Surgical treatments are categorized by the specific aspect of symbrachydactyly that the treatment addresses: syndactyly and web contracture, brachydactyly and digit instability, and lack of opposition.

If your child has a more serious case, he may need to have bones transferred, usually from the toes, to add length to the affected fingers. In some cases, a toe or multiple toes are transplanted to the affected hand (a process called toe transfer or toe-to-hand transfer) so that your child will eventually be able to pinch, pick up and hold objects.

Complications right after surgery are uncommon and usually minor. But medium- to longer-term complications can include:

  • infection
  • poor bone healing
  • stiff knuckle joints
  • finger dislocation

After surgery, your child is usually placed in an above-elbow cast for three weeks to help immobilize and protect the hand. Once the cast is removed, a splint that slides in between the fingers and keeps them apart is used for an additional six weeks. During this time, your child’s doctor may recommend occupational or physical therapy to help reduce scarring, stiffness and swelling and improve function.

Doctors will want to see your child for follow-up visits to ensure that healing is proceeding well and function has returned. In some cases, follow-up will continue for years to evaluate whether additional surgery is needed to improve the function or appearance of your child’s hand.

Syndactyly and web contracture

Syndactyly and web contractures are treated to improve independent digital function, grasp span, and appearance. For incomplete simple syndactyly of the digits, 2-fold or 4-fold Z-plasty is usually sufficient 31). Options for deepening the first web space include multiple Z-plasties, local rotational flaps, and more complex advancement techniques 32). Release of the first web space in symbrachydactyly can be more challenging than similar releases done for other diagnoses due to a lack of local skin available 33).

Brachydactyly and digit instability

Nonvascularized free toe phalanx transfers

This operation is intended to augment the length and stability of the fingers to improve prehension and appearance. It has been advocated for short metacarpals or phalanges with an adequate distal soft-tissue envelope to receive the transferred phalanx; toe proximal phalanges must be available for transfer 34). The literature reveals variable results, with longer term follow-up showing more disappointing outcomes.

The technique includes preserving the volar plate, collateral ligaments, physis, and periosteum of the transferred phalanx, as described by Goldberg 35). In that series of 15 patients, the authors found that physes were more likely to remain radiographically open in children who were younger at the time of the transfer 36).

Buck-Gramcko 37) reported similar outcomes in 97 extraperiosteal nonvascularized proximal toe phalanx transfers in 57 children, and Radocha 38) reported that the preservation of the periosteum contributed to the growth of the transferred segment in children younger than 12 months at the time of surgery.

More recently, however, Cavallo 39) studied 64 nonvascularized toe phalanx transfers in 22 children, 18 with symbrachydactyly, and concluded that little longitudinal growth occurred but transverse growth did occur, and contributed stability to the digits. In 11 cases, the transfer was unstable; this complication was most common in patients with symbrachydactyly.

Tonkin 40) reported on 10 children treated with nonvascularized toe phalanx transfers, with a mean follow-up of 7 years. Function testing showed that 5 could use their digit for complex activities, 2 for simple tasks, and 3 for assisting the other hand. Parents reported satisfaction with appearance of the hand and feet, but felt there was no improvement in the hand’s function. Most recently, Garagnani 41) studied 40 children with a mean follow-up of 10 years, and found ubiquitous donor site morbidity that increased with growth, along with a high rate of emotional problems with foot appearance and functional problems with footwear.

None of these studies followed children to skeletal maturity and few offered thorough assessments of the function and appearance of the hand following surgery, making evaluation of this procedure difficult. Complete resorption of the transferred phalanx has been observed, as might be expected with a terminal bone graft, and claims of advantages of performing this operation early have not held up. Furthermore, claims of growth of the transferred phalanx are often based on radiographic patency of the physis, but animal studies have shown that radiolucency does not necessarily indicate that a physis is growing 42). If surgery is postponed until the child is older they can participate in the decision making, the phalanx is larger, and there is less growth potential to lose.

This operation may be useful in type IIA symbrachydactyly, when the base of the proximal phalanx is present along with a generous soft-tissue envelope. The cartilage at the base of the transferred phalanx can be debrided allowing bony healing between the ossific nucleus and the phalanx, reducing the likelihood of instability. When considering this operation, the surgeon should counsel parents and patients to adjust their expectations for cosmetic and functional outcomes, including foot appearance 43).

Distraction lengthening

Lengthening a bone by distraction osteogenesis with or without secondary intercalary bone grafting is potentially useful for the treatment of short fingers in symbrachydactyly, but the indications for lengthening are unclear 44). This treatment rarely normalizes appearance and is fraught with complications. The literature shows mixed results with little information to indicate whether this procedure improves function and appearance.

Hulsbergen-Kruger’s 45) series of 3 patients with symbrachydactyly indicated that attempts to lengthen hypoplastic bones, including transferred toe proximal phalanges, resulted in pseudarthroses, infections, and resorption with no reported improvement in function. Foucher20 reviewed results of distraction lengthening in 41 patients (22 with symbrachydactyly) and reported an average gain of 2.3 cm over 4 months. Complications included infection, nonunion, or fracture in 32%. Miyawaki 46) reported 4 successful cases of metacarpal lengthening in patients with types IIA, IIB, and IIIA, noting improved pinch strength with no major complications; Matsuno et al 47) have reported angulation of the lengthened bones, with unsatisfactory appearance. Heo 48) reported a series of 24 metacarpal and 27 phalangeal lengthening procedures with a 31% complication rate, including nonunion, fracture, premature consolidation, angulation, and hardware failure.

Seitz 49) has reported a large series reflecting his long-term experience with distraction lengthening in the arm, forearm, and hand for children with a wide range of conditions. He acknowledges that this treatment is complex and arduous and has a high complication rate (50% minor, 9% major) but reports that in most cases increased length is achieved and the family and child are satisfied 50).

Given the high rates of complications reported for distraction lengthening and the paucity of evidence to support significant functional gains, we rarely perform this procedure and do not advocate it for symbrachydactyly.

Free vascularized toe-to-hand transfer

Although toe-to-hand transfer is well accepted for the treatment of traumatic amputations in adults and children, its indications for reconstruction of congenital malformations remain more nuanced.

In 1988, Lister 51) described 12 toe-to-hand transfers in children with various congenital hand differences, including 3 cases of symbrachydactyly, and noted unique neurovascular anatomic variations in each patient. Others have reinforced that there is a wide variation in the neurovascular structures in symbrachydactyly 52). In 2001, Foucher 53) reported on 51 toe transfers in 45 patients with symbrachydactyly. Transfers to types IIIA and IIIB were the most common, followed by type IVA. In children with type IIIB, a combination of toe transfers to finger positions with vascularized epiphysis and nonvascularized toe phalanx transfer to the thumb was done. They found no functional problems with donor feet. At 5-year follow-up, range of motion (ROM) was adequate, and most participants reported that they used the affected hand in daily activities.

In 2004, Richardson 54) described the results of 18 free toe transfers in 13 patients with symbrachydactyly. The results of a bimanual hand function questionnaire indicated that 61% could lift a cup, 54% could button, 38% could cut paper, and 30% could use a knife and fork; 85% of parents were happy with the appearance of the hand and 77% were happy with the function of the hand. Because of diverse vascular anatomy, the authors recommended obtaining an angiogram preoperatively.

Schenker 55) evaluated grip function after free toe transfer in children with hypoplastic digits, finding that the participants could use the transferred digit to lift a small object with a precision grip, but only one-third modulated their grip in proportion to the load being grasped. They found increased forces on the fingertips of transplanted digits during grasp, and concluded that this was due to misalignment of the finger during the grasp 56).

Bellew 57) reported 10-year follow-up of 33 children (21 with symbrachydactyly) who had toe-to-hand transfers focusing on psychological outcomes. Children and their parents reported psychological well-being, satisfaction with the appearance of the transferred digit and the donor site, and positive reactions from others, and felt that the transferred digit served a functional role in daily activities.

Kaplan 58) administered the Pediatric Outcome Data Collection Instrument (PODCI) to 15 children who had toe-to-hand transfers and found that scores for self-reports of upper extremity function and transfer/mobility, and parent reports of global function, upper extremity function, and sports/physical function, were lower than normative scores (they did not compare postoperative with preoperative scores). They also found that parents underestimated sports/physical function and happiness compared with the patient reports; this has been shown for other congenital conditions as well 59).

Anatomical variation in vascular structures engenders concern about potential effect of these anomalies on the viability of the vascular anastomoses and survival of the transferred toe. A review of toe-to-hand transfers in congenital hand differences 60), however, found an average transplant survival rate of more than 96%. Other issues include unpredictable range of motion in the transferred digit; as some surgeons have noted, the vascularized toe transfer often results in a sensate post for prehension by another digit 61).

Jones 62) proposed a morphologic framework of indications for vascularized toe transfer for thumb and finger reconstruction in congenital conditions, including “complete absence of the thumb and all four fingers” and finger reconstruction when there is “absence of all four fingers but with normal thumb function,” which correspond to types IIIA and IVA symbrachydactyly. However, the indications for toe-to-hand transfers are still being established for unilateral symbrachydactyly. Creating opportunities for pinch and grip are important but should be weighed against the risks of surgery, and parental expectations must be aligned with realistic outcomes. Further research is needed to determine whether this operation improves function from baseline and to distinguish any postoperative functional changes from normal child development.

Future directions

The advent of composite tissue transplantation has led to the reality of hand transplantation for adults with traumatic hand loss. There are many risks to this operation, including the long-term need for immunosuppressive medication; in addition, psychological counseling is imperative beforehand 63). These challenges, along with the uncertainty of growth potential, contraindicate this operation in children with unilateral hand conditions. Tissue engineering has the potential to address the challenge of limited tissue availability for reconstructing the congenitally malformed hand. Engineering de novo tendons or augmenting tendon regeneration has the potential to overcome the lack of suitable donor tendons for use in the hand 64). The creation of composite tissues could someday mean that patient-derived digits could be grown ex vivo and transplanted 65).

Symbrachydactyly prognosis

Symbrachydactyl patients often have mild limitations in daily activities.

Symbrachydactyl prognosis greatly depends on:

  • The extent of the disease.
  • The response to therapy.
  • Age and overall health of the child.
  • Your child’s tolerance of specific procedures or therapies.
  • New developments in treatment.

Surgery can be very successful in helping the use and appearance of the hand. If your child’s case is severe, they may need additional reconstructive surgery or multiple surgeries to achieve greater function and improve their hand’s appearance. But to some extent, the hand will always look different and function differently. As your child grows, they may use prosthetics for some sports and activities.

Your child may need to be followed for a number of months or years to:

  • ensure that the healing has gone well
  • check that function has returned to your child’s hand
  • determine whether additional surgery is needed to improve the function or appearance of the hand as your child grows (additional procedures often needed to deepen the web space between fingers using skin grafts).

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