A number of conditions may present with features similar to the Ligase IV Syndrome.
Conditions to consider in the differential diagnosis of the Ligase IV Syndrome:
(1) Nijmegen Breakage Syndrome (NBS)
(2) Fanconi anemia (FA)
(3) Seckel Syndrome (SS)
Features shared:
(1) microcephaly
(2) mental retardation or developmental delay
(3) increased risk for malignancy
(4) radiosensitivity
(5) bone marrow abnormalities
|
Finding
|
NBS
|
FA
|
SS
|
LIG 4
|
|
external ear anomalies
|
Yes
|
Yes
|
Yes
|
No
|
|
nose large or long
|
Yes
|
No
|
Yes
|
Yes
|
|
polydactyly
|
Yes
|
Yes
|
No
|
No
|
|
syndactyly
|
Yes
|
No
|
No
|
No
|
|
infections with impaired immunity
|
Yes
|
Yes
|
No
|
Yes
|
