CHARGE syndrome
Updates to Article Attributes
CHARGE syndrome (formally known as the CHARGE association) is an acronym that classically describes a combination head and neck, cardiac, CNS and genitourinary disorders:
- C: coloboma
- H: heart defects (congenital heart disease)
- A: atresia (choanal)
- R: retardation (mental)
- G: genital hypoplasia
- E: ear abnormalities/deafness
Pathology
It is thought to occur due to disturbance in embryonic differentiation ~35th to 45th day of gestation.
Genetics
Most cases are sporadic but there are occasional autosomal dominant forms. Approximately two-thirds of cases is caused by a defect in the CHD7 gene on chromosome 8 4.
Diagnosis
The diagnosis of CHARGE syndrome can be made on clinical grounds 6:
- definite CHARGE syndrome: four major characteristics or three major characteristics and three minor characteristics
- possible/probable CHARGE syndrome: one-to-two major characteristics and several minor characteristics
Major criteria
- coloboma (~85%)
- choanal atresia/stenosis (~55%) (or cleft palate)
- cranial nerve dysfunction, e.g. facial palsy (~40%), dysphagia (~80%)
- CHARGE syndrome ear (some or all of the following)
- atretic outer ear
- ossicular chain malformation
- Mondini malformation
- absent/hypoplastic semicircular canals
Minor criteria
- genital hypoplasia
- developmental delay
- congenital heart disease, e.g. tetralogy of Fallot
- short stature
- cleft palate +/- lip
- oesophageal atresia / tracheo-oesophageal fistula (~15%) 2
- characteristic facies
Associations
Treatment and prognosis
The prognosis is variable dependent on the extent of defects. In sporadic forms the risk of recurrence is at ~1%.
History and etymology
This constellation of pathology was initially described by B D Hall and separately by H M Hittner in 1979. The term "CHARGE" was first coined by R A Pagon to describe an association between the symptoms and subsequent work isolated a common genetic defect seen in 60% of individuals: the CHD7 defect.
-<p><strong>CHARGE syndrome</strong> (formally known as the <strong>CHARGE association)</strong> is an acronym that classically describes a combination head and neck, cardiac, CNS and genitourinary disorders:</p><ul>- +<p><strong>CHARGE syndrome</strong> is an acronym that classically describes a combination head and neck, cardiac, CNS and genitourinary disorders:</p><ul>
-<a title="Coloboma" href="/articles/coloboma">coloboma</a> (~85%)</li>- +<a href="/articles/coloboma">coloboma</a> (~85%)</li>
-<a title="Choanal atresia" href="/articles/choanal-atresia">choanal atresia</a>/stenosis (~55%) (or <a href="/articles/cleft-palate">cleft palate</a>)</li>- +<a href="/articles/choanal-atresia">choanal atresia</a>/stenosis (~55%) (or <a href="/articles/cleft-palate">cleft palate</a>)</li>