Congenital upper limb deficiency (CLD) results from failure of formation or abnormal shaping of the upper limb during gestation. CLDs can be isolated, impact a single structure, or occur in multiple limbs, suggesting a pattern or syndrome.
Multiple anatomic classification systems have been described [Frantz-O’Rahilly, 1961; Swanson, 1976; Froster, 1996; Gold et al., 2011].1,2,3,4,5 However, a widely used and accepted system was created by the International Society for Prosthetics and Orthotics (IPSO) for defining limb deficiency based on anatomic and radiologic findings, classifying the limb as a longitudinal or transverse deficiency.3 For a transverse deficiency, the congenital amputation is named after the segment where there is no remaining skeletal structure. For longitudinal deficiency, the residual limb is named by the bones that are affected. Recently, the Oberg-Manske- Tonkin (OMT) system has been adopted as one of the new international classifications. Approximately 20% of patients with CLD will have a combined OMT diagnoses.6
|Oberg Manske Tonkin Classification||Definition||Example|
|Deformation||Fully developed limb that sustained an insult||Amniotic band syndrome|
|Malformation||Entire limb or axis involved||Syndactly, radial longitudinal, hypoplasia|
|Dysplasia||Abnormal limb growth is driven by a tumor gene||Macrodactyly|
|Associated syndromes||Inherited or genetic abnormality||Poland Syndrome|
Potential causes include chromosomal or genetic abnormalities, maternal influences (maternal or gestational diabetes,7,8 smoking, viral infection,6 teratogens,6 and toxin exposure), and intrauterine factors (uterine anatomic abnormalities, amniotic banding, and injury from early chorionic villus sampling).9
Vascular pathology often contributes to limb deficiency with an approximate frequency of 34%.10 The most common theory thought to contribute to unilateral limb deficiency involves disruption of large branching vessels off the heart into the arm.6 Congenital conditions associated with vascular compromise include terminal transverse limb deficiency, Moebius syndrome, Poland syndrome, and Adams-Oliver syndrome.11,12 Some evidence suggest an association between congenital limb deficiency, particularly terminal transverse limb deficiency, and maternal thrombophilia.13
The etiology of most CLDs remains unknown or is multifactorial.
Epidemiology including risk factors and primary prevention
Congenital limb deficiencies impact 5 to 9.7 births for every 10,000 live births. In the United States it is estimated that limb differences occur in 1of every 1,900 live births according to the Centers for Disease Control and Prevention.14 The ratio of upper extremity to lower extremity involvement is 3:1.15
Radial deficiencies are approximately three times as common as ulnar deficiencies, occurring in 1 in 30,000 and 1 in 100,000 live births, respectively.16Conditions with radial involvement include vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, limb abnormalities (VACTERL), Thrombocytopenia absent radius (TAR), Fanconi anemia, Holt-Oram syndrome, and Robert’s syndrome. Ulnar deficiencies are more likely to be associated with musculoskeletal conditions like Cornelia de Lange syndrome, ulnar mammary syndrome, and ulnar fibula dysplasia, instead of systemic conditions.17 Goals of early treatment for radial deficiency are geared toward successful reconstruction of the thumb, while in both radial and ulnar deficiencies, treatment goals target centralization of the hand.18 All surgical interventions must be guided by the likelihood of functional gains.
Prenatal risk factors include maternal diabetes, gestational diabetes, prescription drug use, recreational drug use and gestational hypertension.19 A recent large multi-center study demonstrated more proximal limb deficiencies, medical comorbidities and additional orthopedic comorbidities had a significantly higher odds ratio in patients whose mother had gestational diabetes.15 Therefore, prenatal education and management is essential.
Primary prevention includes counseling for families with known disorders, diligent obstetrical evaluation of medications, use of prenatal vitamins, counseling against ingestions/smoking, and treatment of diabetes.
Terminal transverse limb deficiency and amniotic band sequence are sporadic occurrences. They, therefore, do not carry a recurrence risk greater than that of the general population for subsequent pregnancies. An isolated terminal transverse deficiency is the most frequent CLD, occurring in 3 of every 10,000 live births20 which may result from a combination of embryologic differences, hormonal impact on development, vascular disruption, and/or sporadic genetic events.
Much of critical limb development occurs between 26 days to 8 weeks gestation guided by a process that appears to be controlled by a small set of genes. Upper extremity CLD primarily occurs during this period due to a failure of mesodermal formation and/or limb differentiation. Normally, the upper limb develops proximally to distally with the upper arm developing before the forearm and hand. The hand itself develops in a distal to proximal fashion. With unilateral deficiency, ipsilateral abnormal organogenesis may occur. If bilateral, craniofacial anomalies are more likely.
Intrauterine fibrous amniotic bands may inhibit full limb development or may disrupt a previously intact limb. The exact pathophysiology of amniotic band syndrome remains controversial.
Disease progression including natural history, disease phases or stages, disease trajectory (clinical features and presentation over time)
Generally, there are fewer complications with CLD compared with acquired limb deficiency. Children with upper CLD adapt activities of daily living skills to achieve functional milestones, with or without prosthetic intervention. In approximately 10% of cases, revision amputation may augment function. Scoliosis can occur in unilateral CLD and usually does not require surgical correction. Continued monitoring is indicated for functional change, muscle imbalance, overuse of the opposite limb, and limb growth.
Specific secondary or associated conditions and complications
CLD is not associated with phantom pain. However, children can develop pain. Pain is more common in those with proximal deformity and bilateral involvement.21 Terminal overgrowth may occur with amputation from amniotic band formation. Compromised skin integrity occurs with ill-fitting prostheses.
Due to the chronology of development during the first trimester, greater than 80% of heritable limb deficiencies are associated with anomalies outside of the musculoskeletal system.20 Craniofacial, cardiac and hematologic anomalies are commonly associated with upper limb deficiency.22
Therefore, when a deformed upper extremity is identified at birth it is essential for clinicians to consider other syndromes, such as VACTERL or TAR, and if suspected, clinicians should begin systemic workup.
Scoliosis is present in up to 65% of those with CLD.23 A recent study by Deniz et al. demonstrated a lower thoracic curve with apex toward the affected limb as well as longer thoracolumbar curve.
Essentials of Assessment
History includes obstetrical and genetic history, and maternal exposures/ingestions. Approximately 1 in 5 are diagnosed prenatally.24 Patients diagnosed prenatally may have extensive workup. With syndromic features, an expanded history regarding feedings difficulties, respiratory distress, bowel dysfunction, and cardiac abnormalities are indicated. Approximately 70% are diagnosed post-Natally.24 Family history is another essential component of the history despite familial inheritance is rare.
With development and maturation, interventions are guided by emerging functional goals, interests, or psychosocial implications.
A complete initial examination identifies other anomalies. Assessment includes growth and development; pectoral structures; residual limb length; HEENT exam; cranial nerves; heart, spine, skin, and anal structures. Muscle strength and range of motion are examined with and without the prosthesis. The skin should be monitored for any skin breakdown, evidence of increased pressure from the prosthetic or chronic skin changes such as verrucous hyperplasia. The spine should be assessed for scoliosis. The clinical exam generally correlates with the ISO/ISPO radiographic classification (see subsequent examples in chart). Functional integrity and integration of the involved extremity into tasks are paramount.
|Longitudinal radius deficiency||Intercalary radial deficiency||Radial hemimelia/radial club hand|
|Terminal transverse humerus deficiency||Terminal horizontal humerus deficiency||Above elbow amputation|
A child’s function is directly observed and can be objectively measured. The Unilateral Below Elbow Test (UBET) was designed specifically for this population, for both prosthetic wearers and non-wearers. The Canadian Occupational Performance Measure is a family-centered tool that identifies priorities and guides therapy intervention. Observation of their mobility pattern is important to identify difficulties with weight bearing or balance. In addition to the standardized evaluations as above, play should be observed for fine motor skills and bimanual use.
The Patient Reported Outcomes Measurement Information System (PROMIS) and Pediatric Outcomes Data Collection Instrument (PODCI) are validated and sensitive tests for comparing patients with CLD. Compared to healthy individuals, patients with CLD may have lower functional scores however, they had lower scores with anxiety, depression and pain. They additionally had higher scores with peer relations.25,26 When comparing between different age groups, young children demonstrated more upper extremity motor impairment.26
Laboratory workup may identify genetic or other abnormalities in patients with dysmorphic features but are not indicated in the absence of syndromic features, including most CLDs. When suspected, basic renal/metabolic function laboratories may identify other organ involvement, such as renal disease. In neonates with radial deficiency, baseline hematologic studies are indicated to identify treatable thrombocytopenia or anemia.
Prenatal imaging including three-dimensional (3D) ultrasound and fetal magnetic resonance imaging (fMRI) are increasingly utilized and may identify the deficiency prenatally Transabdominal 3D ultrasound may identify up to 50% of upper limb deficiencies.27 The IPSO classification system reflects the radiologic appearance of the residual limb.22
Supplemental imaging, such as magnetic resonance imaging, may be indicated in complex CLD. fMRI may reliably demonstrate development of the long bones. The skeletal system can be observed on fMRI at approximately 27 weeks.27 If there is suspicion for a congenital syndrome, consider a cardiac echocardiogram, renal ultrasound, and abdominal imaging.
If there is evidence of spinal abnormalities on examination, consider spinal x-rays.
Early predictions of outcomes
Children with CLD adapt remarkably well to optimize function. Prosthetic-driven function is generally enhanced with longer residual limbs; however, with a functionally retained wrist, prosthetic rejection is high. These patients function better without a prosthesis, especially with balanced muscle groups enabling full range of motion.
Although lower extremity prosthetic intervention is nearly universally accepted, meaningful use of upper extremity prosthetics is, and should be, guided by function. A child who functions better without a prosthesis, will most likely reject one. Not a failure, this reflects a functional success. A focus on task-specific devices links to patient values and goals.
Evaluation of a child’s environment is crucial when prescribing a prosthesis. Obtaining history about the location of use of a prosthetic device could change a recommended prescription. Rural or farm environments favor body-powered devices, as would deserts, beaches, or places with inconsistent power sources. Myoelectric devices require geographic access to repair services.
Social role and social support system
The psychosocial effects of this population directly influence quality of life. In a recent study, it was found that patients reported lower scores of anxiety and depression and higher scores for positive peer relationships when compared to unaffected peers.25 This could be attributed to the ability of this population to utilize positive coping mechanisms as well as their perceived support from social networks, including teachers, classmates, and family, which contribute to an elevated self-esteem. This has positive implications that can be utilized when guiding families to help their children develop strong psychosocial adaption.17
However, mental health should remain an essential component of evaluation as their perceptions and self-esteem may change at various milestones throughout their life.6 Children who have higher social deprivation may be at higher risk for a lower psychosocial well-being. Adolescents tend to be at a higher risk of internal stressors of the aesthetic component whereas younger children are at higher risk of external stressors of the aesthetic component such as bullying.28
The cultural context regarding treatment must incorporate values, morals, and expectations of that child, family, and society. Realistic goals and expectations are crucial. Despite advanced technology, prostheses do not mimic normal functionality or cosmesis. Expected use, cost/benefit, and ease of operation must guide prosthetic decision-making.
Rehabilitation Management and Treatments
Available or current treatment guidelines
Independence with and without a prosthesis is a general goal for prosthetic intervention to promote acquisition of age-appropriate milestones. The first passive prosthesis is introduced around 3 to 6 months when sitting is achieved, facilitating bimanual tasks and promoting the device as a general practice guideline.29 Although early fitting does not guarantee acceptance, most children achieve mastery of cause and effect by about 12 months of age. Both occupational therapy and prosthetic training allow for improved motor skills of the upper extremity.30 By then, the terminal device is activated to open and close. Myoelectric or hybrid devices are considered later, guided by functional use.
Prosthetic fittings are generally limb-level dependent and have a variety of options including oppositional, body-powered, and externally powered devices with hands, hooks of various shapes, mitts, etc. at the terminal end. Families commonly prefer a terminal end that resembles a hand. Benefits to early prosthetic fitting include encouraging of bimanual tasks and facilitating symmetric crawling.31
Patient acceptance of the prosthesis is dependent on multiple factors: level of limb loss, severity of comorbidities if present, comfort and usefulness of the prosthesis, and acceptance of limb deficiency by family members. In general, the higher the limb absence, the less likely acceptance will be achieved.
A wearing schedule helps with acceptance. Prosthetic use is positively impacted by parental support of the wearing, design, and expected function of the device. Additionally, upper limb prosthetics do not restore the sensory and proprioceptive input of the hand.
In general, there are no official guidelines, and these recommendations are based on best practices.
At different disease stages
Prosthetic interventions are guided by developmental stages and readiness at every developmental stage. Functional independence with and without a prosthesis are nearly universal goals. Rejection is likely if the prosthesis does not enhance function. The team supports decisions to trial and, potentially, to reject prosthetic intervention. Components are chosen to anticipate growth functional needs. Devices should fit comfortably. At each visit, utility and satisfaction with the prosthesis is assessed. Unwillingness to wear the prosthesis reflects poor fit, interference with function, or inappropriate choice of device.
Generally, body-powered devices are durable and cost-effective, and are prescribed early on. The simple cable mechanism translates movement directly to the terminal device. Myoelectric systems are costlier, heavier, and technologically fragile. Younger patients, typically around early walking age, use a single-site myoelectric device for voluntary opening of the terminal device. Later, a second site allows volitional opening and closing. By ages 4-5, children are likely to be able to operate all types of prosthetic components and control schemes currently available.32
As children age, hobbies and other interests develop. Prosthetic emphasis may shift accordingly. Task-specific devices for sports, vocation, or hobbies emphasize function, reflecting the patient’s values. At each stage, the team promotes confidence and self-determination.
Coordination of care
Clinic coordination is crucial for success, incorporating providers trained and comfortable with pediatric CLD. Team composition includes physiatry, occupational therapy, orthopedics, and prosthetists. An interdisciplinary, family-centered clinical team facilitates communication.
Scheduling that promotes peer interaction is preferable.
Patient & family education
The physiatrist explains the diagnosis and functional prognosis. Education is part of every encounter. With nearly universal Internet use, families access sites such as Children Having Infant Limb Deficiency, an online support network. The Association of Children’s Prosthetic-Orthotic Clinics’ website provides information and links.
The most important outcome measure is daily functional use and parental/patient report of function. Outcomes are influenced by independence, confidence, and self-determination. If a prosthesis is prescribed, guided patient/family interactions with care providers help to maximize the utility of the prosthetic device based on setting and functional task.
Objective measures, such as the ACMC, UBET, UNB, and the AHA are all functional tests used in the pediatric population to assess function.
Translation into practice: practice “pearls”/performance improvement in practice (PIPs)/changes in clinical practice behaviors and skills
Although the ultimate goal is optimal function, excluding a syndrome or treatable comorbidity is crucial.
Prosthetic fitting and specialized therapy occur in developmentally appropriate stages to achieve specific milestones. Families may seek your approval and agreement to discontinue prosthetic use, whether because of functional or behavioral issues, especially if the device is clearly limiting function. Sometimes parents try to prevent the child’s rejection of the prosthesis and may project their disapproval to the team.
There are social, cultural, and religious implications to limb deficiencies. Continued reassurance and support should always be provided.
Cutting Edge/ Emerging and Unique Concepts and Practice
Hand transplant surgery has changed amputation management in the adult population. However, in CLD, there is greater risk and uncertainty. In CLD, growth considerations are crucial, along with the possibility for different innervation, absent skeletal elements, and muscle integrity. Most unilateral CLD patients achieve functional independence. Therefore, unless transplant can fully normalize function, the risk, including lifelong immunologic challenges, outweighs the currently understood benefits of hand transplantation.
Myoelectric technology continues to improve, although scaling down the available and future options to child-sized components will take time. Prosthetics with multiple grip configurations are starting to develop. These devices often have articulations at the fingers for manual dexterity.
3D printing of prosthetics is becoming an additional modality of prosthetics. Over the last five years, this has been a large interest within the limb difference community as well as the research community. In 2012, the first 3D printed prosthetic called Magic Arm was created for children with neuromuscular weakness such as arthrogryposis.33 Different manufacturing allows for improved individualization of the design and function. 3D printed prosthetics may be lighter than the human hand which is common reason for rejection.33,34 Similar to traditional prosthetics, they can be both body powered or externally powered. Prior studies reveal decreased cost in comparison to a traditional prosthetic.35 Children frequently require new prosthetics due to growth and 3D printed prosthetics may provide benefit for upgrading the prosthetic. Future studies may include acceptance, durability, overall expense and functionality of these prosthetics.
Gaps in the Evidence-Based Knowledge
Despite improved technology of myoelectric and transplant frontiers, there is considerable mismatch between parental expectations and actual functionality. Potentially, with lighter, sturdier components, early neural development could be enhanced by fitting infants with myoelectric prosthetics. Integrating prosthetic and neural function remains an intriguing horizon.
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- Ghabrial R, Versace P, Kourt G, et al. Mobius’ syndrome: features and etiology. J Pediatr Ophthalmol Strabismus. 1998; 35(6):304–311.
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- Facts about upper and lower limb reduction defects [Internet]. Centers for Disease Control and Prevention. Centers for Disease Control and Prevention; 2020 [cited 2022Sep8]. Available from: https://www.cdc.gov/ncbddd/birthdefects/ul-limbreductiondefects.html
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- O’Keefe D., Hui L., Kennedy J., McCombe D., Coombs C., Hui L., et al. Pre-natal and post-natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register.J Paediatr Child Health. 2022 Jan; 58 (1): 122-128.
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Original Version of the Topic
Ann C. Modrcin, MD, Matthew McLaughlin, MD. Congenital Upper Limb Deficiency. 12/02/2013.
Previous Revision(s) of the Topic
Matthew McLaughlin, MD, Suzan Lisenby, MD, Sumita Sharma, MD, Ann C. Modrcin, MD. Congenital Upper Limb Deficiency. 6/28/2018.
Matthew McLaughlin, MD, MS
Nothing to Disclose
Amanda Lindenberg, DO, OT
Nothing to Disclose