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CHARGE Syndrome

CHARGE syndrome is a rare genetic disorder occurring in 1 in 8,500-10,000 newborns that is caused by a mutation in the CHD7 gene. It is characterized by abnormalities in multiple body systems including the eyes, ears, heart, genitals and cranial nerves. Common features include coloboma of the eye, heart defects, atresia of the nasal passages, delayed growth, genital abnormalities and ear abnormalities. Management involves supportive care, hearing implants if needed, and individualized schooling programs.

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96 views1 page

CHARGE Syndrome

CHARGE syndrome is a rare genetic disorder occurring in 1 in 8,500-10,000 newborns that is caused by a mutation in the CHD7 gene. It is characterized by abnormalities in multiple body systems including the eyes, ears, heart, genitals and cranial nerves. Common features include coloboma of the eye, heart defects, atresia of the nasal passages, delayed growth, genital abnormalities and ear abnormalities. Management involves supportive care, hearing implants if needed, and individualized schooling programs.

Uploaded by

jsdlzj
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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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

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