An inherited isolated brachydactyly syndrome not affecting other organ systems.
Brachydactyly, Combined Types B and E; Ballard Type Brachydactyly; Pitt-Williams Brachydactyly.
Twelve members in five generations of a family have been reported.
This medical condition is inherited as autosomal dominant, especially for this subtype of brachydactyly. The syndrome is named after the affected family.
Members of this family have shortened metacarpals and metatarsals IV and V. Broadened thumbs were described in some members, as well as dysplastic fingernails (grooved and koilonychia-like) on the affected fingers and toes. There were no other abnormalities present in any of the family members. In 1951, Julia Bell classified the brachydactyly conditions in five main groups (A–E). This present form of brachydactyly combines the features of Types B and E. Type B involves the index to little fingers and is characterized by a symmetrical deformity with hypoplasia or absence of the distal phalanges with absence or dysplasia of the affected nails. Changes on the ulnar side are more pronounced than changes on the radial side. In Type E, one or more metacarpals are shortened, either with or without shortening of the metatarsals.
No specific anesthetic implications should arise from this disorder given the described features.
Other condition to be considered
Brachydactyly is a common feature of many syndromes. Its significance results from the association with other abnormalities. If brachydactyly is found, a thorough clinical examination is warranted, looking for other malformations that might have specific implications for anesthesia.
J: On brachydactyly and symphalangism: Introduction and classification of cases. Treasury Hum Inherit 5:1–31, 1951.
I: A new brachydactyly syndrome with similarities to Julia Bell types B and E. J Med Genet