CHIME syndrome

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CHIME syndrome
Other names: Zunich neuroectodermal syndrome, Zunich–Kaye syndrome
Autorecessive.svg
CHIME syndrome has an autosomal recessive pattern of inheritance.

CHIME syndrome, also known as Zunich–Kaye syndrome or Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983.[1] The acronym CHIME is based on its main symptoms: colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and either ear defects or epilepsy.[2] It is a congenital[3] syndrome with only a few cases studied and published.[2]

Symptoms and signs

a,b)Prominent forehead, ocular hypertelorism, upslanting palpebral fissures, everted lower lip, widely-spaced teeth; c) short neck; d) hyperchromic/icthyosiform skin lesions, geographic lesions with hyperpigmented borders in thorax

Associated symptoms range from things such as colobomas of the eyes, heart defects, ichthyosiform dermatosis, intellectual disability, and ear abnormalities. [2]

Further symptoms that may be suggested include characteristic facies, hearing loss, and cleft palate.[citation needed]

Genetics

CHIME syndrome is considered to have an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome, and two copies of the gene, one from each parent, are required to inherit the disorder. The parents of an individual with autosomal recessive disorder both carry one copy of the defective gene, but usually do not have the disorder.[citation needed]

Diagnosis

The definitive diagnosis of CHIME syndrome can be done via genetic test[4]

Treatment

Treatment with isotretinoin may induce substantial resolution of skin lesions, but the risk of secondary infection remains.[2]

See also

References

  1. Zunich J, Kaye CI (1983). "New syndrome of congenital ichthyosis with neurologic abnormalities". Am. J. Med. Genet. 15 (2): 331–3, 335. doi:10.1002/ajmg.1320150217. PMID 6192719.
  2. 2.0 2.1 2.2 2.3 "OrphaNet entry". Archived from the original on 2017-11-16. Retrieved 2023-07-26.
  3. "Birth Disorder Information Directory – Z". Archived from the original on 2011-09-10. Retrieved 2007-04-22.
  4. "CHIME syndrome - NIH Genetic Testing Registry (GTR) - NCBI". www.ncbi.nlm.nih.gov.

Bibliography

External links

Classification
External resources