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GTR Home > Tests > CHARGE syndrome

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Anophthalmia
  • Anosmia
  • Anal atresia
  • Ptosis
  • Choanal atresia
  • Cleft upper lip
  • Congenital ocular coloboma
  • Cryptorchidism
  • Dysphagia
  • Double outlet right ventricle
  • Patent ductus arteriosus
  • Esophageal atresia
  • Sensorineural hearing impairment
  • Atrial septal defect
  • Ventricular septal defect
  • Umbilical hernia
  • Polyhydramnios
  • Hydronephrosis
  • Hypertelorism
  • Hypocalcemia
  • Hypoparathyroidism
  • Hypothyroidism
  • Lymphopenia
  • Micrognathia
  • Microphthalmia
  • Delayed puberty
  • Valvular pulmonary stenosis
  • Right aortic arch
  • Scoliosis
  • Self-mutilation
  • Tetralogy of Fallot
  • Tracheoesophageal fistula
  • Arrhinencephaly
  • Holoprosencephaly sequence
  • Cataract
  • Radial head subluxation
  • Microtia
  • Mixed hearing impairment
  • Hand polydactyly
  • Webbed neck
  • Horseshoe kidney
  • Feeding difficulties
  • Low-set ears
  • Iris coloboma
  • Anal stenosis
  • Hemivertebrae
  • Overriding aorta
  • Pulmonary artery atresia
  • Duodenal atresia
  • Renal hypoplasia
  • Lop ear
  • Hypogonadotropic hypogonadism
  • Secundum atrial septal defect
  • Facial palsy
  • Downslanted palpebral fissures
  • Short thumb
  • Renal agenesis
  • Global developmental delay
  • Congenital omphalocele
  • Facial asymmetry
  • Parathyroid hypoplasia
  • Absent radius
  • Square face
  • Bilateral talipes equinovarus
  • Abnormal rib morphology
  • Cupped ear
  • Labial hypoplasia
  • Hypoplastic male external genitalia
  • Motor delay
  • External genital hypoplasia
  • Down-sloping shoulders
  • Malar flattening
  • Postnatal growth retardation
  • Hypoplasia of the ulna
  • Cleft palate
  • Absent tibia
  • Retinal coloboma
  • Unilateral microphthalmos
  • Intellectual disability
  • Aplasia of the semicircular canal
  • Aplasia/Hypoplasia of the thymus
  • Bifid femur
  • Hand monodactyly
  • Abnormal palmar dermatoglyphics
  • Dysplastic tricuspid valve
  • Micropenis
  • Microcephaly
  • Gonadotropin deficiency
  • Decreased response to growth hormone stimulation test
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Inheritance pattern

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Sporadic

Conditions tested

Target population

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Specifically designed at Centogene, this gene test is targeted to the patients suspected to this disease and patients with positive familial history. Centogene is revealing associations between particular gene mutations and disease, and over a thousand tests can now determine whether a person carries a particular disease-associated allele.

Citations

Not provided

Clinical validity

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Number of mutations were up to now reported as causing mutation for this disease, and vast majority of them were reported as missense type, identified with more than 99,9% specificity using standard sequencing at Centogene. Deletion/duplication analysis is also designed at Centogene specifically for this gene and offered in order to specially meets the patient`s needs. Gene test for this gene could support precise diagnosis of the disease in majority of affected patients with family history, as well as number of sporadic patients with particular symptomatology. The ability of this particular gene test to accurately and reliably identify or predict the intermediate or final outcomes of the disease is fairly high.

Citations

Not provided

Clinical utility

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Establish or confirm diagnosis

Citations
  • The benefits associated with the use of this genetic test in practice are numerous, including improvement in measurable clinical outcomes and usefulness, added values in clinical management of the patient. This gene test could lead to the improved health outcome in affected patients. The test can provide information about diagnosis, and support the treatment, management, or prevention of a disease. This gene test also supports following issues: the effectiveness of available interventions for individuals at increased risk, social consequences of genetic information, economic implications of genetic testing and follow-up of the patients.

Practice guidelines

  • ACMG, 2013
    Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
  • EuroGentest, 2011
    Clinical utility gene card for: CHARGE syndrome.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.