Beals syndrome


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Beals syndrome

(belz)
[Rodney K. Beals, U.S. orthopedic surgeon, b. 1931]
Congenital contractural arachnodactyly.

Beals,

Rodney Kenneth, U.S. orthopedic surgeon, 1931–.
Beals syndrome - congenital condition resulting in abnormally long hands and fingers and often feet and toes. Synonym(s): arachnodactyly
References in periodicals archive ?
IN this week's trip to Temple Street Children's University Hospital, we meet long-term patient Thomas Fleming who was born with Beals Syndrome.
Beals syndrome has distinct features, however, and is caused by a mutation in the fibrillin-2 gene (FBN2) in 5q23; Marfan syndrome is caused by mutations in fibrillin-1 [2-4].
We present a case of a patient with Beals syndrome who presented to the emergency department with a history of fractures; and on this presentation with a fracture of the distal tibia and fibula.
He was diagnosed formally to have Beals syndrome after review by a geneticist.
Although Marfan syndrome has been recognized for more than a century, Beals syndrome has only recently been accepted as a distinct entity because its features are quite similar to Marfan syndrome.
Eye anomalies and joint laxity are commonly found in Marfan syndrome [2-4], whereas they are very rare in Beals syndrome [2].
The differential diagnosis was either severe neonatal MFS, or Beals syndrome.
A very small minority have specific genetic disorders such as the Beals syndrome (congenital contractural arachnodactyly (MIM 121050)) or the Shprintzen-Goldberg syndrome (MIM 182212).