Rhizomelic dysplasia Patterson Lowry type
Overview
A very rare syndrome characterized mainly by short upper arm and thigh bones.
Symptoms
Short fingers Curved fingers Flat face Coxa vara Knock knees
Causes
1q deletion - brachydactyly 2q deletion - brachydactyly 3q deletion - brachydactyly 46,XX chromosome 7 deletion p13 - short fingers 49,XXXXX syndrome - clinodactyly of fifth fingers