Otodental syndrome

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Classification according to ICD-10
K00.2 Abnormalities in the size and shape of the teeth
ICD-10 online (WHO version 2019)

A Otodentales syndrome is a very rare, for ectodermal dysplasia to be counted congenital disease abnormal with the main features of dental crowns , greatly enlarged canines and molars and sensorineural hearing loss .

Synonyms are: otodental dysplasia; Oto-dental syndrome; Oto-dental dysplasia; Globodonty

The first description comes from 1975 by the US human geneticists Stefan Levin, Ronald Jorgenson and Roger Cook .

distribution

The frequency is given as less than 1 in 1,000,000, so far about 10 families have been described. The inheritance is autosomal dominant .

root cause

The disease are partly mutations in FGF3 - Gen m chromosome 11 locus q13 or FADD gene locus at q13.3 basis.

Clinical manifestations

Clinical criteria are:

  • large teeth with clumsy tooth crowns (globodontia), possibly taurodontia , fusion of cusps, delayed eruption of milk teeth
  • missing premolars in 50%
  • sensoneural hearing loss

diagnosis

The diagnosis is based on the dental findings; a diagnosis can be made using molecular genetic methods.

Prospect of healing

The functional prognosis is good with appropriate dental treatment and hearing aid fitting .

literature

  • SB Cehreli, RB Brannon, RJ Musselman, RE Tirali, M. Derbent: Otodental syndrome: a case presentation in a 6-year old child. In: European journal of pediatric dentistry: official journal of European Academy of Pediatric Dentistry. Vol. 15, No. 2 Suppl, July 2014, pp. 215-217, PMID 25101506 .
  • A. Bloch-Zupan, JR Goodman: Otodental syndrome. In: Orphanet Journal of Rare Diseases. Vol. 1, 2006, p. 5, doi: 10.1186 / 1750-1172-1-5 , PMID 16722606 , PMC 1459122 (free full text) (review).
  • J. Beck-Mannagetta, H. Müller, E. Richter, K. Donath: Odontomas and pantonal hearing impairment in otodental syndrome. In: German Dental Journal. Vol. 39, No. 3, March 1984, pp. 232-241, PMID 6585292 .

Individual evidence

  1. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c d e Oto-dental syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ LS Levin, RJ Jorgenson, RA Cook: Otodental dysplasia: a "new" ectodermal dysplasia. In: Clinical genetics. Vol. 8, No. 2, August 1975, pp. 136-144, PMID 1175318 .
  4. ↑ Otodental dysplasia chromosome deletion syndrome.  In: Online Mendelian Inheritance in Man . (English)