Rieger syndrome
| Classification according to ICD-10 | |
|---|---|
| Q13.8 |
Other congenital malformations of the anterior segment of the eye Rieger syndrome |
| ICD-10 online (WHO version 2019) | |
The term Rieger Syndrome (syn. Irido-Dental Dysplasia, Axenfeld Syndrome, Rieger-Axenfeld Syndrome and Dysgenesis mesodermalis corneae et iridis ) describes an inhibitory malformation of the mesoderm due to a gene mutation. The syndrome is autosomal - dominant inherited. Are affected chromosomes 4, 6, 11 and 18, specifically the currently loci 4q25-27, 13q14, 6p25 and 6q24 known.
Clinical picture
Iris dysplasia is typical , presenting a coloboma , hole formation, deformation of the pupil or synechiae . It can lead to glaucoma , usually in connection with malformations in the corner of the eye . However, the pathomechanism for the development of glaucoma in Rieger syndrome is variable.
Other serious symptoms are middle ear deafness, cerebral retardation, tooth, jaw and facial skull malformations ( microdontics , reduced number of teeth, see hypodontia ), umbilical hernia and bone formation disorders in the skeletal system.
therapy
A causal therapy is not yet known; with unsatisfactory success, symptom-related plastic-operative corrections are possible and are necessary, in particular, with regard to vision.
See also
Individual evidence
- ↑ a b c d e R. Witkowski et al: Lexicon of Syndromes and Malformations. Springer, 2003, ISBN 3-540-44305-3 , p. 1107, (online)
- ↑ a b c A. Burk: Checklist ophthalmology. Thieme Verlag, 2005, ISBN 3-13-100573-4 , p. 547, (online)
- ↑ a b c d D. V. Michalk: Differential Diagnosis Pediatrics. Urban & FischerVerlag, 2005, ISBN 3-437-22530-8 , p. 187, (online)