Congenital Amputation in Down's Syndrome: A Case Report



A case history is presented of a congenital left distal hemimelia amputee with the additional diagnosis of Down's Syndrome. The program of care, prosthetic fitting and acceptance, and the use of the prosthesis by the child is presented.

A thorough literature review, which lists innumerable secondary defects in the Down's-Syndrome child, failed to show any other case of congenital amputation. For this reason, the case in point is presented.


On August 16, 1977, a child was admitted to the Children's Amputee Clinic of The Kessler Institute for Rehabilitation with the diagnosis of a congenital below-elbow amputation, in effect, a transverse hemimelia of the left wrist. The child was 11 1/2 months old at the time of admission. In addition, a diagnosis of Down's Syndrome was very evident on physical examination, and the referral information stated that on chromosome analysis a trisomy 21 was revealed.

As has been noted in many in-depth studies of this syndrome, the patient showed little evidence of developmental retardation at the time of her initial evaluation. It is the feeling of most clinicians that the developmental testing of infants is influenced primarily by the child's motor development alone. This development remains close to normal in the Down's-Syndrome infant. This fact was manifested in the referral note of the physician when he stated that, "The psychomotor development does not appear significantly delayed."

Langdon Down3 first described the syndrome, which was formerly called Mongolism, in 1866. The designation of Down's Syndrome has been substituted for the less acceptable name, Mongolism, in recent years. Down's Syndrome is the most common cause of mental retardation, and mental retardation remains one of the most consistent features of the syndrome. A review of mentally retarded patients living in institutions indicates that 9 per cent of such patients have a diagnosis of Down's Syndrome.

Many varied physical deficits have been described in Down's Syndrome. Recent comprehensive reviews by Berg1, and another by Coleman2, list a multitude of clinical abnormalities associated with the syndrome. It would appear that no system is spared. Evaluations of the extremities suggest the clinical findings of short stubby fingers, the clinodactyly of the fifth fingers with the shortening of the middle phalanx and the inward curve of the fingers. The presence of syndactyly of the hands and feet and of club feet is also described. The only other bony abnormality described with any frequency is the atlanto-axial dislocation. In neither of these comprehensive reviews is the presence of a congenital amputation mentioned. It is for this reason that the present case is presented.

Status at Initial Evaluation

The child was born on August 30, 1976, the result of a full-term spontaneous delivery. The birth weight was 3.4 kg (7 1/2 lbs.). This was the fifth pregnancy of this 34-year-old mother. There are four other children in good health with ages from 6 to 12. There is no family history of Down's Syndrome. According to studies, the mother's age at the time of delivery falls within the apparently more susceptible age group of 33 to 37 years.

Physical and X-ray evaluations were entirely negative except for the congenital absence of the left wrist and hand and the stigmata of Down's Syndrome. These included prominent epicanthal folds, oblique palpebral fissures, small flattened nose, prominent flattened forehead, protruding tongue, splaying of the great toes bilaterally, and short broad hand and feet. There appeared to be no other congenital defects. She therefore fell well into the diagnostic criteria suggested by Hall and others to substantiate the diagnosis of Down's Syndrome.

On initial evaluation, the child was found to stand momentarily and was capable of walking while holding on to furniture. She was able to sit without support, but she was still unable to rise independently to a seated posture. She was able to say "mamma" and "dada" and imitate other speech sounds. Her vocabulary included two or three other words. Though initially shy with strangers, she would play patty cake. She could drink from a cup and indicate her wants without crying. She played peek-a-boo and attempted to reach out for toys that were out of physical reach. Her major developmental deficits for her age were the inability to pull herself to sitting or standing independently, stoop and recover posture, and the inability to stand alone.


At 17 months of age, a left below-elbow prosthesis was prescribed with double-wall socket, flexible elbow hinge, triceps cuff, figure-of-eight harness with fixed cross, single-control system, friction wrist unit, and 12-P Dorrance hook. The prosthesis was delivered to the patient at the age of 19 months, and a program of prosthetic training was started.

Initially, she presented a stubborn, resistive attitude toward the training sessions, being resistive to the structured sessions and generally manipulative. Once these problems were overcome, she showed that she was fully capable of following directions, she began to play appropriately with the toys that were presented to her, and she showed a more than adequate attention span. The functional evaluation showed the presence of hypermobility of all joints to be another of the characteristics of the Down's Syndrome manifested by this patient.

At 2 years and 3 months of age, the patient was fully ambulatory and performing independent elevation activities, crawling. Developmental testing at that time suggested a 15-to-18-month developmental level.

In spite of the developmental delay, the patient was employing her prosthesis spontaneously as an assist. Her most functional prehensile patterns, using her right hand, were radial palmar and three-jaw chuck. She occasionally isolated her index finger for poking objects. She emptied and filled a container, and she was spontaneously able to build a tower of two blocks. She had started to transfer objects from the right hand to the left hook, holding with the left by pressing the object between her prosthesis and her body (Figure 1. ). She demonstrated assistive dressing and independently removed her hat, mittens, and shoes (Figure 2. ). She could feed herself with a spoon and drink from a cup. She had achieved independence in toilet activities.

A psychological evaluation was carried out at 2 years and 6 months of age. The test results suggested an age equivalent of 1 year 8 months and a social quotient of 72, classification borderline using the Vineland social maturity scale. The child ambulated independently (Figure 3. ), and was able to pull herself to standing from the floor. She could climb into a chair without assistance. She was independent in eating and in drinking from a cup. She played with toys, marked with a pencil, and indicated other evidence of purposeful behavior. Dressing was limited, as was speech.

The patient had the advantage of being kept at home by the parents rather than being institutionalized. Many studies have proven that such children tend to show evidence of less severe mental retardation if they are reared at home. In addition, the child was attending a special-education class for developmen-tally delayed children for three hours a day, five days a week.

After the patient had worn her prosthesis for about a year, the occupational therapist made an interesting observation. In the usual case of Down's Syndrome that is seen in our treatment areas, the children show insufficient development of the rotational components in the trunk necessary for mature equilibrium reactions. There is often an excessive mobility of the joints, little trunk rotation, and a tendency toward scapular adduction to achieve stability. This patient appeared to be able to develop counter-rotary movements, and it was felt that because she had worn the prosthesis for a year, the patient had developed an awareness of the upper trunk and the ability to perform rotary skills through the trained use of scapular abduction to activate the terminal device of the prosthesis.

At the present time, the patient accepts the prosthesis willingly. She uses it primarily as a gross assist in bimanual activities, and she also uses it for weight-bearing, such as crawling. She uses the terminal device as a prehensile device in structured play situations, but activation of the terminal device with intent continues to be inconsistent (Figure 4. ).

She has not as yet achieved the functional level of use which we would anticipate from a child of similar age without Down's Syndrome. Her age at present is 2 years 8 months. She still does not voluntarily open the terminal device to grasp objects as we would expect at her age.

We are surprised, however, at her acceptance and functional involvement of the prosthesis as an assistive device. Once again, significant parental support and encouragement obviously played a great part in the success of the program.


  1. Breg, W. R., Down's Syndrome: a review of recent progress in research. Pathobiol Annu, 7:257-303, 1977.
  2. Coleman, Mary, Down's Syndrome. Pediatric Annals, 7:2:90-103, February 1978.
  3. Down, J. L. H., Observation of an ethnic classification of idiots. London Hospital Clinic Lecture Rep 3:259-262, 1866, reprinted in Vollman, R. F., Down's Syndrome (Mongolism): A Reference Bibliography. National Institutes of Health, Bethesda, 1969.
  4. Johnston A. W., R. M. Speed, and H. J. Evans, A chromosome survey of total population of mentally subnormal in North East Scotland. Clin Genet, 10:359, 1976.
  5. Lillienfeld, A. M., Epidemiology of Mongolism, p. 22. Johns Hopkins Press, Baltimore, 1969.