CHIME syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The CHIME syndrome , acronym for C olobom , H erzfehler, I chthyosis -like dermatitis , M entale retardation and E pilepsie , is a very rare congenital disease with the main features of a wandering dermatosis , both sides coloboma, conductive hearing loss , seizures , mental retardation and facial abnormalities .
Synonyms are: neuroectodermal syndrome; Dysplasia, neuroectodermal, type CHIME; Carbohydrate-deficient glycoprotein syndrome due to PIGL deficiency; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies; Zunich neuroectodermal syndrome; PIGL-CDG ; Zunich-Kaye syndrome ; English Zunich neuroectodermal syndrome
The name refers to the authors of the first description from 1983 by the US doctors Janice Zunich and Celia I. Kaye .
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
The disease is based on mutations in the PIGL gene at locus 17p11.2.
Clinical manifestations
Clinical criteria are:
- Craniofacial abnormalities such as brachycephaly , mongoloid eyelid axis, pale blue iris , hypertelorism , flattened midface and philtrum , forward nostrils , wide mouth
- Tooth abnormalities , widely spaced and square
In addition, there can be cleft palates , heart defects , funnel breasts or additional nipples .
Therapy and prognosis
The skin changes respond well to isotretinoin treatment . The mental retardation is pronounced, the epileptic seizures increase after puberty and the scarless skin rashes become chronic.
literature
- BG Ng, K. Hackmann, MA Jones, AM Eroshkin, P. He, R. Wiliams, S. Bhide, V. Cantagrel, JG Gleeson, AS Paller, RE Schnur, S. Tinschert, J. Zunich, MR Hegde, HH Freeze: Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. In: American Journal of Human Genetics . Vol. 90, No. 4, April 2012, pp. 685-688, doi: 10.1016 / j.ajhg.2012.02.010 , PMID 22444671 , PMC 3322218 (free full text).
Individual evidence
- ↑ a b c d CHIME syndrome. In: Orphanet (Rare Disease Database).
- ^ J. Zunich, CI Kaye: New syndrome of congenital ichthyosis with neurologic abnormalities. In: American journal of medical genetics. Vol. 15, No. 2, June 1983, pp. 331-3, 335, doi: 10.1002 / ajmg.1320150217 , PMID 6192719 .
- ↑ CHIME syndrome. In: Online Mendelian Inheritance in Man . (English)
