CHARGE syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

When CHARGE Syndrome (or the CHARGE association ) is a genetic defect that affects in which various organs. The acronym CHARGE is based on an abbreviation of some of the most common symptoms (C - coloboma of the eye, H - heart defect, A - atresia of the choans , R - retarded length growth and developmental retardation, G - genital malformation , E - ear malformation).

The syndrome was first described by Hall in 1979 , but the name was not defined by Pagon until 1981 .

The frequency of occurrence is about 0.1–1.2 per 10,000 but is not known exactly and may be underestimated.

The genetic basis of the syndrome is represented by microdeletions and mutations in the CHD7 gene on chromosome 8q12, which mostly occurs de novo without a hereditary background.

Clinical symptoms

Malformation of the ears in CHARGE syndrome

The severity of the syndrome is variable; not all features appear in every person affected.

Coloboma of the eye

The coloboma is a gap that affects the iris (iris), retina ( retina ) or both and can occur on one or both sides. A number of visual disturbances such as visual field loss, retinal detachment and hypersensitivity to light can result.

Heart defect

Most of the patients have a heart defect . Fallot's tetralogy is most common (about a third of those affected), but a large number of other malformations are possible ( persistent ductus arteriosus , ventricular septal defect , atrial septal defect, etc.).

Atresia of the Choans

At birth, the nasal passage ( choane ) can be blocked on one or both sides or unusually narrow ( choanal atresia ).

Retarded growth in length and delay in development

The delayed growth (physical retardation) is caused by problems with circulation, lung function, nutritional problems or occasionally a growth hormone deficiency. It usually only becomes manifest in childhood, as the birth weight is usually normal. The development of mental abilities is also very variable.

Anomalies of the genital organs

Underdevelopment of the genital organs is mainly noticed in boys. This affects the external genital organs and is therefore only easily detectable in men. Underdevelopments of the testicles ( cryptorchidism ), micropenis , hypospadias and the lack of anchoring of the uterus , cervix uteri or vagina are common problems. Some women have small outer labia . Kidney malformations also occur.

Malformations of the ear

Ear malformations classically manifest themselves in unusually shaped auricles , which is due to a cartilage deficiency and poor function of the facial nerve with the resulting malfunction of the intrinsic ear muscles.

The hearing loss can be mild or severe.

Diagnostic criteria

All four major features or three major and three minor features are required for a diagnosis. The diagnosis should be considered in any child who exhibits any of the main characteristics.

main features

Secondary criteria

  • Sexual organ abnormalities (micropenis, undescended testicles, etc.)
  • Mental and motoric developmental delay
  • Heart defect
  • Short stature
  • Gaps in the face area ( cleft lip and palate . Problems caused by ear infections, when feeding and when speaking).
  • Tracheal fistula ( tracheo-oesophageal fistula )
  • Esophageal malformations (esophageal atresia)
  • Characteristic CHARGE face (asymmetry of the face, angular face shape, broad, protruding forehead, ptosis (sagging lids), flat mid-face, small chin.)

Differential diagnosis

To be distinguished are u. a. the Graham-Cox syndrome , mandibulo-facial dysostosis-microcephaly syndrome , Nager syndrome , Treacher Collins syndrome

Therapy and prognosis

Children with CHARGE syndrome require intensive medical care and a variety of corrective interventions. These primarily concern the correction of the choanal constriction in order to facilitate breathing as well as the cardiac surgical correction of the heart defects, which are often essential for life. A tracheo-oesophageal fistula also requires urgent surgery.

There are currently few adults in whom CHARGE has been identified, possibly because it was not described until 1979; Due to its growing popularity, the condition is also being diagnosed in an increasing number of adults.

supporting documents

literature

  • KD Blake, C. Prasad: CHARGE syndrome. In: Orphanet J. Rare Dis. 2006 Sep 7; 1, p. 34. Review. PMID 16959034
  • Ursula Horsch, Andrea Scheele (ed.): The CHARGE syndrome. A specialist book for medical professionals, educators, therapists, parents and those affected. Median, Heidelberg 2009, ISBN 978-3-941146-04-4 .

Individual evidence

  1. ↑ CHARGE association at orpha.net (English)
  2. ↑ BD Hall: Choanal atresia and associated multiple anomalies. In: J Pediatr . 1979 Sep; 95 (3), pp. 395-398. PMID 469662
  3. ^ RA Pagon, JM Graham Jr, J. Zonana, SL Yong: Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. In: J Pediatr. 1981 Aug; 99 (2), pp. 223-227. PMID 6166737
  4. ↑ KD Blake, KA Issekutz, IM Smith, C. Prasad, JM Graham, Jr: The incidence and prevalence of CHARGE syndrom. The CPSP annual report 2002 and 2003.
  5. ↑ D. Sanlaville et al .: Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. In: J Med Genet. 2006 Mar; 43 (3), pp. 211-217. PMID 16169932
  6. ^ KD Blake, SLH Davenport, BD Hall, MA Hefner, RA Pagon, MS Williams, AE Lin, JM Graham, Jr .: CHARGE association: an update and review for the primary pediatrician. In: Clin Pediatr (Phila). 1998; 37, pp. 159-173. PMID 9545604
  7. ↑ Home «CHARGE Syndrome. Retrieved July 12, 2017 .

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