CHARGE syndrome

Definition
- 1 in 8,500-10,000 newborns
- Mutation in CHD7 gene (chromosome 8)
- CHARGE
o C: Coloboma/cranial nerve abnormalities
o H: Heart defects
o A: Atresia choanae (choanal atresia)
o R: Retardation of growth
o G: Genital abnormalities
o E: Ear abnormalities
C Coloboma
- Gap/hole in one of the eye structures that forms during early development
- May impair vision depending on size and location
- May have under-developed/small eyes (microphtalmia)

Cranial nerve abnormality

- Swallowing problems, facial paralysis, hyposmia (diminished smell) or anosmia
H Heart defects
- TOF/TGA
A Atreesia chonae/stenosis
- Blocked nasal passages (choanal atraesia) or narrowed (choanal stenosis)
- Can cause difficulty breathing
R - Slow growth starting in late infancy
- Intelelctual retardation
G Genital abnormalities
- Hypogonadotropic hypogonadism
- Boys: Small penis (mcropenis) or undescended testis (crytochidism)
- Both: Incomplete or delayed puberty
E Ear abnormalities
- Mild-profound hearing loss (cranial nerve abnormalities)
- Middle/inner ear abnormalities
- Unusually shaped external ears (bowl-shaped and concave ears lop ears) like a
rabbit
Others Facial features
- Square-shaped face
- Facial asymmetry
Mouth
- Cleft lip +/- cleft palate
Development
- Delayed development of motor skills (e.g. sitting unsupported and walking)
GIT
- Tracheo-oesophageal fistula fistula between oesophagus and trachea
Investigations
- Genetic testing ChD7 mutation (Chromosome 8)

Management
- Supportive care, hearing implants, individualised schooling program