Purpose
Transverse deficiency (TD) and symbrachydactyly may be difficult to distinguish due
to shared phenotypes and a lack of pathognomonic features. The 2020 Oberg-Manske-Tonkin
classification update modified these anomalies to include “with ectodermal elements”
for symbrachydactyly and “without ectodermal elements” for TD as a defining differentiating
characteristic. The purpose of this investigation was to characterize ectodermal elements
and the level of deficiency and to examine whether ectodermal elements versus the
level of deficiency was a greater determining factor for Congenital Upper Limb Differences
(CoULD) surgeons making the diagnosis.
Methods
This was a retrospective review of 254 extremities from the CoULD registry with a
diagnosis of symbrachydactyly or TD by pediatric hand surgeons. Ectodermal elements
and the level of deficiency were characterized. A review of the registry radiographs
and photographs was used to classify the diagnosis and compare it with the diagnosis
given by the pediatric hand surgeons. The presence/absence of nubbins versus the level
of deficiency as the determining factor to differentiate the pediatric hand surgeons’
diagnosis of symbrachydactyly (with nubbins) versus TD (without nubbins) was analyzed.
Results
Based on radiographs and photographs of the 254 extremities, 66% had nubbins on the
distal end of the limb; of the limbs with nubbins, nails were present on 51%. The
level of deficiency was amelia/humeral (n = 9), <1/3 transverse forearm (n = 23),
1/3 to 2/3 transverse forearm (n = 27), 2/3 to full forearm TD (n = 38), and metacarpal/phalangeal
(n = 103). The presence of nubbins was associated with a four times higher likelihood
of a pediatric hand surgeon’s diagnosis of symbrachydactyly. However, a distal deficiency
is associated with a 20-times higher likelihood of a diagnosis of symbrachydactyly
than a proximal deficiency.
Conclusions
Although both the level of deficiency and ectodermal elements are important, the level
of deficiency was a greater determining factor for a diagnosis of symbrachydactyly
versus TD. Our results suggest that the level of deficiency and nubbins should both
be described to help provide greater clarity in the diagnosis of symbrachydactyly
versus TD.
Type of study/level of evidence
Diagnostic IV.
Key words
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Article info
Publication history
Published online: March 16, 2023
Accepted:
January 18,
2023
Received:
August 2,
2022
Publication stage
In Press Corrected ProofFootnotes
No benefits in any form have been received or will be received related directly or indirectly to the subject of this article.
Identification
Copyright
© 2023 by the American Society for Surgery of the Hand. All rights reserved.
