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 5^th 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