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Criteria of Bamshad et al to Identify a Distal Arthrogryposis (DA)

Description

The distal arthrogryposes (DA) are a group of hereditary congenital conditions with distal limb contractures. Bamshad et al listed criteria to distinguish these conditions from other disorders with secondary contractures. The authors are from the University of Utah.


 

Criteria for a distal arthrogryposis:

(1) inherited, with at least one member of a kindred meeting the other criteria

(2) primary limb contractures (exclusions include primary neurologic or muscular diseases)

(3) involvement of 2 or more different body areas (see below)

 

Criteria for upper limb involvement - one ore more of the following:

(1) ulnar deviation

(2) camptodactyly or pseudocamptodactyly (permanent flexion of 1 or more fingers)

(3) hypoplastic or absent flexion creases

(4) overriding fingers

 

Criteria for lower limb involvement - one or more of the following:

(1) talipes equinovarus

(2) calcanovalgus deformity

(3) vertical talus

(4) metatarsus varus

 

A person is identified as having a distal arthrogryposis can then be further classified based on phenotypic features (see next section).

 


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