Differential Diagnosis Table for CHARGE
|
Feature |
CHARGE |
del22q (VCF) |
VACTERL |
Kabuki |
|
Coloboma |
+++ (80-90%) |
Rare |
- |
Rare |
|
Choanal atresia |
+++ (50-60%) |
Rare |
Rare |
- |
|
Cranial nerves 9-10 |
+++ (80-90%) long lasting feeding problems |
+ + (30%) |
- |
feeding problems are common |
|
Cranial nerve 7 |
+++ (40%) facial palsy |
- |
- |
possibly |
|
Cranial nerve 1 |
Absent or abnormal sense of smell |
- ? |
- |
- ? |
|
Characteristic Ear |
Short, wide, no lobe, unfolded helix, triangular concha. Floppy |
Long, narrow ear with large lobe |
- |
Large, prominent, lobe present, preauricular fistula |
|
Hearing loss |
+++ (>90%) often mixed Mondini defect of cochlea, absent semicircular canals |
+ usually conductive |
- |
++ (50%) Some abl. cochlea, semicircular canals |
|
Characteristic Face |
Square face, prominent forehead, arched brows, round eyes, small nares, prominent columella |
Long, narrow face, almond shaped eyes |
- - |
Arched brows, long palpebral fissures, everted lower lid, ptosis, blue sclera, small or wide-spaced teeth, short columella |
|
Characteristic Hand |
Hockey-stick palmar crease, short wide hands |
Long, narrow palm and hands |
- |
Prominent finger tip pads, short 5th finger |
|
Heart defects |
+++ (80%) esp conotruncal |
+++ (75%) esp conotruncal |
++ (30%), esp VSD |
++ (30-50%) |
|
Cleft palate |
+ (25%), including submucous clefts |
+++ (70%), inc VPI |
Rare (2%) |
+ (25%), including submucous clefts |
|
Cleft lip |
+ (15%) |
++ (30%) |
Rare |
+ |
|
Genital abnormalities |
+++ (75%) undescended testes, late or no puberty |
Rare |
++ (40%) |
+++ premature breast development in girls |
|
TEF |
+ (20%) |
- |
++ (50%) |
- |
|
Middle ear infections |
+ & resp infections |
+ |
|
+ & resp infections |
|
Thymus abl |
Possibly common |
+ (75%) |
- |
? diminished immunity |
|
Hypotonia |
+++ (>80%) upper |
Rare |
- |
?? |
|
Renal anom |
++ (40%) |
++ (40%) |
+++ (80%) |
+ |
|
Growth deficiency |
+ (>50% small) postnatal |
++ (40%) |
Rare |
+ postnatal |
|
Behavior characteristics |
OCD, Autistic-like Sleep abl. |
LD, psychiatric problems |
- |
Sensory integration, sleep abl, love of music |
|
Intellectual impairment |
+ (50%) |
+ MR and/or LD |
- |
++ microcephaly |
|
Seizures |
Rare |
Rare |
Rare |
Common |
|
Limb abl |
Rare |
Rare |
+ (40%) |
?? |
|
Hypermobility |
+ |
? |
? |
+++, hip and knee dislocation |
|
Scoliosis |
++ esp. neuromuscular |
? |
+ vertebral |
++ |
|
Vertebral abl |
Rare |
+ (20%) |
+++ (80%) |
+, also rib abl |
|
Anal atresia |
Rare |
Rare |
+++ (80%) |
+ |
|
Chromosome abnormality |
Rare |
+++ (95%) 22q11 deletion |
- |
- |
|
Gene Defect |
CHD7 (70%) |
Microdeletion |
- |
Unknown, prob genetic |
11/07

