Congenital upper limb deficiency: A case report

March 1, 2019

Abnormalities of the limbs at birth can be devastating for the parents of a newborn. However, the primary care pediatrician, a rehabilitation team, and the family can help the child develop normal functioning and be independent.

The great majority of congenital deformities arise between the fourth and eighth weeks of pregnancy. Birth defects are typically classified as structural or developmental, causing mild to severe impairments. Approximately 3% of newborns in the United States are affected with major structural or genetic birth defects.1 According to the Centers for Disease Control and Prevention (CDC), each year about 1500 US babies are born with upper limb reductions (about 4 of every 10,000 babies) and about 750 are born with lower limb reductions (about 2 of every 10,000 babies).2 A missing or incomplete arm at birth is referred to as congenital upper limb deficiency or congenital limb amputation or limb reduction. These defects are mostly attributed to primary intrauterine growth inhibition or disruptions secondary to intrauterine destruction of normal embryonic tissues.

There are several classification systems for congenital deformities of the upper limbs such as anatomic or topographical, embryologic, teratologic sequencing, genetic, and different combinations of these. The limb deficiency disorders are a broad group of congenital anomalies featuring significant hypoplasia or aplasia of 1 or more bones of the limbs that can occur in isolation or associated with other anomalies.3

Limb deficiencies can be longitudinal or transverse. Longitudinal deficiencies are along the long axis of the limb (complete or partial absence of the radius, ulna, fibula, or tibia), and mostly genetic or teratogenic in origin. In a transverse deficiency, all the elements below a certain level in the patient’s arm are missing (loss of forearm, hand) and the limb structures before the point of the defect remain intact. It is mostly caused by early amnion rupture sequence (amniotic band).3 The arm appears similar to that of an amputation stump, which is sometimes known as “congenital amputation.” Terms used may be aphalangia (missing fingers and phalanges) to amelia (absence of limb).4,5

Case study

Baby R was born full term to a G2 P1 mother via repeat cesarean delivery at 39 weeks’ gestation. There is no consanguinity with the parents, and the mother was compliant for all prenatal care visits. The mother was negative for hepatitis A, B, and C, human immunodeficiency virus (HIV), and Group B Streptococcus (GBS). Delivery was uncomplicated, but after the delivery of the head and upper body it was noted that Baby R had an absent left forearm, despite a reported “normal” prenatal ultrasound at 20 weeks’ gestation. A diagnosis of amniotic band disruption was made by the neonatologist and explained to the parents, who were distraught. The APGAR scores were 8 at 1 minute and 9 at 5 minutes. Baby R had no other physical abnormalities, no cardiac murmur, and no dysmorphic features. He had an uneventful nursery course and was discharged home with his mother on day 3 of life.

Baby R was followed in the pediatric primary care office for routine newborn care and was seen by the pediatric nurse practitioner (PNP) at the 2-month health promotion visit. Physical assessment revealed normal growth patterns, and he was feeding well. Physical exam was unremarkable with the exception of the left forearm. A small paddle of nubbins was noted at the tip of the deformity above the elbow of the left upper extremity. The infant had fleeting movements of the extremity from the shoulder with poor control. The right upper extremity appeared normal with a full shoulder, elbow, wrist, and digital range of motion, with a normal complement of digits.


Abnormalities of the limbs originate in different stages of embryonic development. Limb buds first appear as small elevations of the ventrolateral body during the fourth week of gestation. At the tip of each limb bud, the ectoderm (outermost layer of cells and tissue in embryonic development) becomes thickened to form an apical ectodermal ridge. Interaction between this ridge and the mesenchymal cells, which become connective tissue, is essential to limb development.6 The apical ectodermal ridge has an influence on the connective tissue, which promotes growth and development of the limbs, and is essential for the elongation process. Defects such as this occur early in gestation as osteogenesis of the long bones starts in the seventh week.

As with other congenital birth defects, the exact cause of an upper limb deficiency is typically not known. Some research has suggested that the exposure of the mother during pregnancy to various viruses, chemicals, medications, and tobacco smoke can be contributing factors.7 Amniotic band syndrome is caused from rupture to the amniotic sac, which can cause various abnormalities. It is due to constriction of encircling amniotic bands, and often can affect the limbs, face, joints, abdomen, or chest wall, and cause neural tube defects.8,9 This infant was referred to the regional Shriners Hospital where he was diagnosed at age 4 months with left upper extremity transverse deficiency at the level of the distal humerus, and not an amniotic band. The orthopedist reported the defect for Baby R was the result of a failure of the ectodermal ridge functioning, most likely from vascular compromise of unknown origin.

When a child is born with a congenital limb deficiency, it affects not only the child, but also parents and families. Parents experience grief and loss with the birth of a child with any deformity and they need guidance and support from the healthcare providers, families, and friends. In a 16-year prospective study of prenatal diagnosis of fetal malformation, the authors report the proportion of limb defects diagnosed via ultrasound was low; wherein 3 of 4 babies with a limb deficiency were not diagnosed in utero.10

Parents of children born with (unexpected) limb deficiency are often shocked and have feelings of guilt. The mother tries to think back if she did any anything wrong that contributed to the defect. The parents may overprotect the child and treat him/her differently from other children because of guilt, which could be detrimental to the growth and development of the child. If parents are not adjusting to the diagnosis, it will affect how the child will feel and react to his/her body.

The main goal for treatment of this defect is the restoration of proper function of the limb and appearance. Treatment can vary for each child based on age, degree of defect, and child and parental preference. Common treatment options include prosthetics (artificial limbs), orthotics (splints or braces), surgery, and rehabilitation (physical and occupational therapy).9 A first prosthesis can be fitted as soon as the child can sit independently because the child needs upper body balance to stabilize in a seated position. Primary devices include a passive hand, progressing to an active device that can be used when the child is older and tries to hold an object with 2 hands.9 The variety of devices can be determined by function, cost, and ease of training and use for parents, children, and therapists, as this field is constantly evolving.

There is controversy surrounding the appropriate age for fitting the prosthesis. Several published reports indicate that most children receive a first prosthesis during their first year of life and receive some type of instruction in active terminal device operation during the second or third year of life.9 A 2003 study surveyed child amputee clinics in North America to explore standards of early fitting of children with unilateral below-elbow limb absence. Most therapists/providers preferred to fit at age 6 months then add an active control system by 18 months, which was an earlier age than reported in the prior literature. It is believed that the early fitting of a prosthesis improves the child’s body image and that may be essential for normal neuromuscular development. However, a more recent study found that age at first fitting was not associated with satisfaction with the prosthesis, functional use of the prosthesis, or motor skills.11

Many children are able to adapt and function well without use of a prosthesis, but some children may need physical therapy, surgery, or other treatments to function better and be more independent.12 Children with upper limb deficiencies may experience physical as well as emotional challenges. A qualitative study reported that children and adolescents with unilateral congenital below-elbow deficiency (UCBED) experienced both negative and positive feelings about their deficiency irrespective of whether they wore a prosthesis or not.13 These feelings depended most on how the social environment accepted the child and reacted to the deficiency. Staring was the most frequently reported public reaction, and negativity affected the self-esteem of the children. Coping strategies included wearing a prosthesis and contact with peers with similar deficiencies. Support from the rehabilitation team and parents was found to be the greatest positive influence on overall psychologic functioning.

Case update

Early intervention and multidisciplinary collaboration are necessary to help these children and parents. In the case of Baby R, the PNP encouraged a multidisciplinary approach to the care of the infant, initiating an early intervention (EI) referral for physical therapy (PT) and occupational therapy (OT) that began at age 3 months. The family of Baby R has been compliant with all well visits, and the infant was fitted with a prosthetic device at age 6 months. He was fitted with a nonfunctional (cosmetic) prosthesis at the mother’s insistence with a local physiatrist at age 6 months.

Baby R has progressed nicely through his first year of life and has continued weekly OT and PT. He is meeting his developmental milestones with some delays that require bimodal activities (ie, transferring objects from 1 hand to another) but is compensating well. Significant support has been provided to the mother for postpartum depression and anxiety. Currently, she is being treated with outpatient counseling and pharmacotherapy by her mental health provider.

Tips for the primary care provider

The main goals for primary care providers are to help children develop normally and be independent. Whereas medical support and consultation is important for infants and children with a congenital defect, psychologic support is paramount for the parents and family. The vision of the “perfect child” can cause grief responses, especially if the defect was not suspected. In a historic study by Gringas of children with hand anomalies, the babies’ desire to explore was limited more by the mothers’ anxiety than their functional problem.14 The authors acknowledged children can pick up devaluing attitudes in which the child feels he/she cannot overcome alone. Parents are also noted to be overprotective and project their own distress to the child, which could be detrimental to the growth and development of a child. Parents should be encouraged to treat their children as normal and allow them to make decisions and care for themselves when developmentally appropriate.

Parents play a critical role in early development of self-awareness in the child before social responses are experienced.15 The parents who have adjusted to their child’s defect will be able to look at the arm without distress, which will encourage others to do the same. As the child continues to grow and develop self-awareness, the parents need to support the awareness of a physical difference but negate self-consciousness about the defect. Primary care office staff can also model support and trust for the family.


Although congenital limb deficiency is not a common occurrence, primary care providers need to remain knowledgeable of community and regional resources to provide to the families and children with a limb defect. Support services need to be in place for both the child and family through the growth and development of the child to encourage meeting of milestones within range and provide modifications to meet the developmental needs of the child. Multidisciplinary support of the child through the school-aged years and adolescence will be paramount for development of self-awareness and positive self-esteem.


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