CDAGS syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The craniosynostosis-anal anomalies-porokeratosis syndrome , also CAP syndrome called, is a very rare genetic disease.
The acronym refers to the combination of features, namely C craniosynostosis and Klavikulahypoplasie , D delayed ( " delayed ") closure of the fontanel and sometimes deafness ( " deafness "), A Anal - malformation , G (uro) genital malformations and S skin ( " skin " ) Changes such as porokeratosis .
The name goes back to the author of the first description from 2005 by R. Mendoza-Londono and colleagues.
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 on chromosome 22 at location 22q12-q13.
Clinical manifestations
The disease is already recognizable in the infant through synostosis of the coronary suture with a wide open fontanel . Often there is also an exanthem as porokeratosis (a keratinization disorder ), sensorineural hearing loss and a significant delay in development .
literature
- E. Chouery, C. Guissart, H. Mégarbané, B. Aral, C. Nassif, C. Thauvin-Robinet, L. Faivre, A. Mégarbané: Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review. In: European Journal of Medical Genetics. Vol. 56, No. 12, December 2013, ISSN 1878-0849 , pp. 674-677, doi : 10.1016 / j.ejmg.2013.09.012 , PMID 24095818 (review).
- A. Taylor, RH Nguyen, DA Glass, NG Agim: JAAD Grand Rounds. Annular plaques and craniosynostosis. In: Journal of the American Academy of Dermatology . Vol. 68, No. 5, May 2013, ISSN 1097-6787 , pp. 881-884, doi : 10.1016 / j.jaad.2011.12.005 , PMID 23602181 .
- N. Flanagan, SA Boyadjiev, J. Harper, L. Kyne, M. Earley, R. Watson, EW Jabs, MT Geraghty: Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. In: Journal of Medical Genetics . Vol. 35, No. 9, September 1998, ISSN 0022-2593 , pp. 763-766, PMID 9733036 , PMC 1051430 (free full text).
Individual evidence
- ↑ R. Mendoza-Londono, E. Lammer, R. Watson, J. Harper, A. Hatamochi, S. Hatamochi-Hayashi, D. Napierala, P. Hermanns, S. Collins, BB Roa, MR Hedge, K. Wakui , D. Nguyen, DW Stockton, B. Lee: Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. In: American Journal of Human Genetics . Vol. 77, No. 1, July 2005, ISSN 0002-9297 , pp. 161-168, doi : 10.1086 / 431654 , PMID 15924278 , PMC 1226190 (free full text).
- ↑ a b CDAGS syndrome. In: Orphanet (Rare Disease Database).
- ↑ CDAGS syndrome. In: Online Mendelian Inheritance in Man . (English)
