Congenital Limb Abnormalities

BySimeon A. Boyadjiev Boyd, MD, University of California, Davis
Reviewed/Revised Sept 2022
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Congenital limb defects involve missing, incomplete, supernumerary, or abnormally developed limbs present at birth.

(See also Introduction to Congenital Craniofacial and Musculoskeletal Disorders.)

Limb deficiencies

Congenital limb amputations and deficiencies are missing or incomplete limbs at birth. The overall prevalence is 7.9/10,000 live births. Most are due to primary intrauterine growth inhibition, or disruptions secondary to intrauterine destruction of normal embryonic tissues. The upper extremities are more commonly affected.

Limb deficiencies can be

  • Longitudinal (more common)

  • Transverse

Longitudinal deficiencies involve specific maldevelopments (eg, complete or partial absence of the radius, fibula, or tibia). Radial ray deficiency is the most common upper-limb deficiency, and hypoplasia of the fibula is the most common lower-limb deficiency. About two thirds of cases are associated with other congenital disorders, including Adams-Oliver syndrome (aplasia cutis congenita with partial aplasia of the skull bones and terminal transverse limb malformations), Holt-Oram syndrome, TAR (thrombocytopenia-absent radius) syndrome, Fanconi anemia, and VACTERL (vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies and radial aplasia, and limb anomalies) syndrome.

Examples of Longitudinal Deficiencies
Radial Ray Deficiency
Radial Ray Deficiency

    In the most severe form of radial ray deficiency, the radius is absent, as in this patient. The hand is angulated and deformed.

... read more

© Springer Science+Business Media

VACTERL (Upper Extremity Limb Abnormalities)
VACTERL (Upper Extremity Limb Abnormalities)

    This photo shows radial atresia of the right arm in a patient with VACTERL (vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies and radial aplasia, and limb anomalies) syndrome.

... read more

Image courtesy of CDC/Dr. James W. Hanson via the Public Health Image Library of the Centers for Disease Control and Prevention.

VACTERL (Lower Extremity Limb Abnormalities)
VACTERL (Lower Extremity Limb Abnormalities)

    This photo shows clubbing of the left foot in a patient with VACTERL (vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies and radial aplasia, and limb anomalies) syndrome.

... read more

Image courtesy of CDC/Dr. James W. Hanson via the Public Health Image Library of the Centers for Disease Control and Prevention.

In transverse deficiencies, all elements beyond a certain level are absent, and the limb resembles an amputation stump. Amniotic bands are the most common cause; the degree of deficiency varies based on the location of the band, and typically, there are no other defects or anomalies. The remaining cases are mostly due to underlying genetic syndromes such as Adams-Oliver syndrome or chromosomal abnormalities.

With transverse or longitudinal deficiency, depending on the etiology, infants may also have hypoplastic or bifid bones, synostoses, duplications, dislocations, or other bony defects; for example, in proximal femoral focal deficiency, the proximal femur and acetabulum do not develop. One or more limbs may be affected, and the type of defect may be different in each limb. Central nervous system abnormalities are rare.

Polydactyly

Polydactyly is supernumerary digits and is the most frequent congenital limb deformity. This deformity is classified as preaxial, central, and postaxial.

Preaxial polydactyly is an extra thumb or great toe. The manifestations range from a broad or duplicated distal phalange to complete duplication of the digit. It may occur in isolation, possibly with autosomal dominant inheritance, or it may be part of certain genetic syndromes, including acrocallosal syndrome (with developmental delay and corpus callosum defects), Carpenter and Pfeiffer syndromes (with craniosynostosis), Fanconi and Diamond-Blackfan anemias, and Holt-Oram syndrome (with congenital heart defects).

Polydactyly
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This photo shows preaxial polydactyly of the left hand.
© Springer Science+Business Media

Central polydactyly is rare and involves duplication of the ring, middle, index fingers. It can be associated with syndactyly and cleft hand. The majority of cases are syndromic.

Postaxial polydactyly is most common and involves an extra digit on the ulnar/fibular side of the limb. Most commonly, the extra finger is rudimentary, but it can be completely developed. In people of African descent, this type of polydactyly is usually an isolated defect. In other populations, it is more often associated with a syndrome of multiple congenital anomalies or chromosomal defects. Among the syndromes to be considered are Greig cephalopolysyndactyly syndrome, Meckel syndrome, Ellis-van Creveld syndrome, McKusick-Kaufman syndrome, Down syndrome, and Bardet-Biedl syndrome.

Syndactyly

Syndactyly is webbing or fusion of fingers or toes. Several different types are defined, and the majority follow an autosomal dominant inheritance pattern. Simple syndactyly involves only fusion of the soft tissue, whereas complex syndactyly also involves fusion of the bones. Complex syndactyly is present in Apert syndrome (with craniosynostosis). Syndactyly of the ring and the small fingers is common in oculo-dento-digital dysplasia. Smith-Lemli-Opitz syndrome manifests with syndactyly of the second and third toes along with multiple other congenital anomalies.

Syndactyly (Complex)
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This patient has complete complex syndactyly with fusion of the bones and soft tissue of the middle and ring fingers.
© Springer Science+Business Media

Diagnosis of Congenital Limb Abnormalities

  • Usually x-rays

  • Sometimes genetic testing

Typically, x-rays are done to determine which bones are involved. When defects appear to be familial or if a genetic syndrome is suspected, evaluation should also include a thorough assessment for other physical, chromosomal, and genetic abnormalities. When available, assessment by a clinical geneticist is useful.

Chromosomal microarray analysis, specific gene tests, or broader gene panel tests should be considered in the evaluation of patients with congenital musculoskeletal abnormalities. If the results of these tests are nondiagnostic, whole exome sequencing analysis is recommended.

Treatment of Congenital Limb Abnormalities

  • Surgical procedures

  • Prosthetic devices

Treatment consists of surgical procedures for polydactyly and syndactyly. Treatment for missing or hypoplastic limbs is mainly through the use of prosthetic devices, which are most useful for lower-limb deficiencies and for completely or almost completely absent upper limbs. If any activity in an arm or hand exists, no matter how great the malformation, functioning capacity must be thoroughly assessed before a prosthesis or surgical procedure is recommended. Therapeutic amputation of any limb or portion of a limb should be considered only after evaluating the functional and psychologic implications of the loss and when amputation is essential for fitting a prosthesis.

An upper-limb prosthesis should be designed to serve as many needs as possible so that the number of devices is kept to a minimum. Children use a prosthesis most successfully when it is fitted early and becomes an integral part of their body and body image during the developmental years. Devices used during infancy should be as simple and durable as possible (eg, a hook rather than a bioelectric arm).

With effective orthopedic and ancillary support, most children with congenital amputations lead normal lives.

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