Oto-onycho-peroneal syndrome

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Classification according to ICD-10
Q87.5 Other congenital malformation syndromes with other skeletal changes
ICD-10 online (WHO version 2019)

The Oto-onycho-peroneal syndrome is a very rare congenital disease with the main features of malformations of the ears (oto), nail hypoplasia (onycho) and hypoplasia or aplasia of the fibula (peroneal) and changes in the shoulder .

The first description comes from the year 1975 by S. Leiba et al., The term was coined in 1982 by the German human geneticist Robert Artur Pfeiffer .

distribution

The frequency is given as less than 1 in 1,000,000, the inheritance is presumably autosomal - recessive . The cause is not yet known.

Clinical manifestations

Clinical criteria are:

  • Malformations of the ears
  • Nail hypoplasia on the fingers or toes
  • Fibula hypo- or aplasia
  • Malformations of the shoulder

literature

  • B. Bessieres-Grattagliano, G. Brodaty, J. Martinovic, C. Fallet-Bianco, AL Delezoide, F. Daffos: Oto-onycho-peroneal syndrome: further delineation and first fetal report. In: American journal of medical genetics. Part A. Vol. 128A, No. 3, July 2004, pp. 316-319, doi: 10.1002 / ajmg.a.30119 , PMID 15216555 .
  • K. Devriendt, D. Stoffelen, R. Pfeiffer, A. Leys, JP Fryns: Oto-onycho-peroneal syndrome: confirmation of a syndrome. In: Journal of medical genetics. Vol. 35, No. 6, June 1998, pp. 508-509, PMID 9643295 , PMC 1051348 (free full text).

Individual evidence

  1. ↑ a b c Oto-onycho-peroneal syndrome. In: Orphanet (Rare Disease Database).
  2. ^ S. Leiba, M. Grunebaum, H. Savir, A. Ber: Oculootonasal malformations associated with osteoonychodysplasia. In: Birth Defects Original Article Series XI (2), pp. 67-73, 1975.
  3. ^ RA Pfeiffer: The oto-onycho-peroneal syndrome. A probably new genetic entity. In: European Journal of Pediatrics. Vol. 138, No. 4, July 1982, pp. 317-320, PMID 7128639 .
  4. ↑ Otoonychoperoneal syndrome.  In: Online Mendelian Inheritance in Man . (English)