IVIC syndrome

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Classification according to ICD-10
Q71.8 Other reduction defects of the upper extremity (s)
ICD-10 online (WHO version 2019)

The IVIC syndrome is a very rare congenital disease with the main features of deafness and radial ray defects.

Synonyms are: Okulo-oto-radial syndrome; English radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia, oculootoradial syndrome; OORS

The name refers to the "Instituto Venezolano de Investigaciones Cientificas", where the first description was made in 1980 by the Venezuelan human geneticist Sergio Arias.

The syndrome should not be confused with Arias syndrome (Crigler-Najjar type II).

distribution

The frequency is unknown and only a few families have been described. The inheritance is autosomal dominant .

root cause

The disease are mutations in SALL4 - gene on chromosome 20 locus q13.2 basis.

Clinical manifestations

Clinical criteria are:

added, an anal atresia come.

Diagnosis and differential diagnosis

The diagnosis is based on the clinical findings; defects in the carpal joint and fingers are found in the X-ray image . Must be distinguished is the Aase syndrome .

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 IVIC syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ S. Arias, VB Penchaszadeh, J. Pinto-Cisternas, p Larrauri: The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. In: American journal of medical genetics. Vol. 6, No. 1, 1980, pp. 25-59, doi: 10.1002 / ajmg.1320060105 , PMID 7395922 .
  4. ^ IVIC syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ I. Paradisi, S. Arias: IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus. In: American journal of medical genetics. Part A. Vol. 143, No. 4, February 2007, pp. 326-332, doi: 10.1002 / ajmg.a.31603 , PMID 17256792 .

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