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 |
Specialty: Genetics