DDOD syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q82.4 Ectodermal dysplasia (anhidrotic)

- Robinson-Miller-Bensimon syndrome

ICD-10 online (WHO version 2019)

The DDOD syndrome is a very rare congenital disease with the main features of deafness from birth , abnormalities of the teeth and nail dystrophy .

The syndrome can be viewed as a special form of ectodermal dysplasia .

Synonyms are: Robinson-Miller-Bensimon syndrome; Robinson Syndrome; autosomal dominant hearing loss-onychodystrophy syndrome

The names refer to the authors of the first description from 1962 by the Canadian pediatrician Geoffrey C. Robinson, the human geneticist James R, Miller and J. R Bensimon.

Robinson-Miller-Worth syndrome is not to be confused .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant . A similar syndrome but autosomal - recessive inheritance is the DOOR syndrome .

root cause

The disease are mutations in ATP6V1B2 - gene on chromosome 8 locus p21.3 basis.

Clinical manifestations

Clinical criteria are:

In addition, syndactyly of the toes and preaxial polydactyly of the hand can occur.

literature

  • I. Menendez, C. Carranza, M. Herrera, N. Marroquin, J. Foster, FB Cengiz, G. Bathci, M. Tekin: Dominant deafness-onychodystrophy syndrome caused by an mutation. In: Clinical case reports. Volume 5, number 4, 04 2017, pp. 376–379, doi: 10.1002 / ccr3.761 , PMID 28396750 , PMC 5378843 (free full text).
  • D. Vind-Kezunovic, PM Torring: A Danish family with dominant deafness-onychodystrophy syndrome. In: Journal of dermatological case reports. Volume 7, number 4, 2013, pp. 125–128, doi: 10.3315 / jdcr.2013.1158 , PMID 24421866 , PMC 3888782 (free full text).
  • SM White, M. Fahey: Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. In: American journal of medical genetics. Part A. Volume 155A, Number 10, October 2011, pp. 2512-2515, PMID 21998865 .

Individual evidence

  1. ↑ a b 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 Deafness-onychodystrophy syndrome, autosomal dominant. In: Orphanet (Rare Disease Database).
  3. ↑ GC Robinson, JR Miller, JR Bensimon:. Familial ectodermal dysplasia with sensori-neural deafness and other anomalies. In: Pediatrics Vol. 30, 797-802, 1962.
  4. ↑ Deafness, congenital, with onychodystrophy, autosomal dominant.  In: Online Mendelian Inheritance in Man . (English)

Web links