Escher-Hirt Syndrome
| Classification according to ICD-10 | |
|---|---|
| H90.0 | Bilateral hearing loss due to conductive disturbance |
| ICD-10 online (WHO version 2019) | |
The Escher-Hirt syndrome also Escher-Hort syndrome called, is a very rare congenital disease with a combination of conductive hearing loss with microtia and rearward displacement of the mandible.
The disease is named after the person who first described it, the Bern ENT doctor Franz Escher and the Basel neuropediatrist Hans Rudolf Hirt .
distribution
The frequency is estimated to be less than 1 in 1,000,000 and inheritance is autosomal dominant . Only a few families are known.
Clinical manifestations
The clinical picture seems to be variable. A microgenius stands out clinically . Diagnostic criteria are conductive hearing loss due to a malformation and underdevelopment of the middle ear ossicles and a lack of connection between anvil and stapes, as well as small, poorly formed auricles ( microtia ) with relatively large, thickened ear lobes.
Investigation methods
The extent and type of malformation of the auditory ossicles can be assessed using magnetic resonance imaging or computer tomography .
therapy
A causal treatment is not known, depending on the type of ear malformation, surgical options may arise, for example a cochlear implant .
literature
- F. Escher, H. Hirt: Dominant hereditary conductive deafness through lack of incus-stapes junction. In: Acta oto-laryngologica. Volume 65, Number 1, 1968, ISSN 0001-6489 , pp. 25-32, PMID 5657116 .
- D. Kotzot, C. Schlegel, W. Wichmann, A. Schinzel: Escher-Hirt syndrome. In: Clinical dysmorphology. Volume 6, Number 4, October 1997, ISSN 0962-8827 , pp. 315-321, PMID 9354839 .
Web links
Escher-Hirt Syndrome. In: Online Mendelian Inheritance in Man . (English)
Individual evidence
- ↑ a b B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .
- ↑ Escher-Hirt syndrome. In: Orphanet (Rare Disease Database).
