Zunich–Kaye syndrome

From Infogalactic: the planetary knowledge core
Jump to: navigation, search
Zunich–Kaye syndrome
Classification and external resources
Specialty Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value).
ICD-10 GroupMajor.minor
ICD-9-CM xxx
OMIM 280000
DiseasesDB 32624
Patient UK Zunich–Kaye syndrome
[[[d:Lua error in Module:Wikidata at line 863: attempt to index field 'wikibase' (a nil value).|edit on Wikidata]]]

Zunich–Kaye syndrome, also known as Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983.[1] It is also referred to as CHIME syndrome, after 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

Associated symptoms range from things such as colobomas of the eyes, heart defects, ichthyosiform dermatosis, intellectual disability, and ear abnormalities. Further symptoms that may be suggested include characteristic facies, hearing loss, and cleft palate.

Genetics

Zunich–Kaye syndrome has an autosomal recessive pattern of inheritance.

Zunich–Kay 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.

Treatment

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

See also

References

  1. Lua error in package.lua at line 80: module 'strict' not found.
  2. 2.0 2.1 2.2 OrphaNet entry
  3. Birth Disorder Information Directory - Z

Bibliography

  • Lua error in package.lua at line 80: module 'strict' not found.
  • Lua error in package.lua at line 80: module 'strict' not found.
  • Lua error in package.lua at line 80: module 'strict' not found.
  • Lua error in package.lua at line 80: module 'strict' not found.
  • Lua error in package.lua at line 80: module 'strict' not found.