Acrocallosal Syndrome

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Classification according to ICD-10
Q04.0 Congenital malformations of the corpus callosum Including: agenesis of the corpus callosum
ICD-10 online (WHO version 2019)

Acrocallosal Syndrome or Acrocallosal Syndrome (ACS) is a dysmorphic syndrome consisting of agenesis of the corpus callosum (CC), distal malformations of the extremities , in particular polydactyly facial abnormalities and intellectual disability .

The frequency (prevalence) is given as less than 1 in 1 million.

It was first described in 1979 by the Austrian human geneticist Albert Schinzel .

Changes associated with the disease may occur such as

Occurring less frequently: short philtrum / upper lip, high palatal arch, cleft lip / palate, heart defects, hypospadias and hernias .

root cause

It is based on mutations in the kinesin gene KIF7 (15q26.1) and in the gene GLI3 (7p14.1. The disease is inherited as an autosomal recessive trait. Other mutations in the same gene are found in Greig's syndrome .

diagnosis

Clinically characteristic are macrocephaly with a prominent forehead, pronounced occiput, hypertelorism , antimongoloid eyelid position, large anterior fontanel , short lower jaw, forward nostrils and a broad, flat bridge of the nose.

A prenatal diagnosis is possible from the 20th week of pregnancy using ultrasound and magnetic resonance imaging.

Differential diagnosis

Are to be delimited

therapy

The prognosis is determined by the severity of the malformations, the hypotonia and the occurrence of seizures.

Individual evidence

  1. ^ 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
  2. ↑ a b c d e f Orphanet
  3. ↑ whonamedit
  4. ↑ A. Schinzel: postaxial polydactyly, duplication hallux, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? In: Helvetica paediatrica acta. Volume 34, Number 2, May 1979, pp. 141-146, ISSN  0018-022X . PMID 457430 .
  5. ↑ DM Walsh, SA Shalev, MA Simpson, NV Morgan, Z. Gelman-Kohan, J. Chemke, RC Trembath, ER Maher: Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. In: European journal of medical genetics. Volume 56, Number 1, January 2013, pp. 39-42, ISSN  1878-0849 . doi: 10.1016 / j.ejmg.2012.10.004 . PMID 23142271 .

literature

  • R. Koenig, A. Bach, U. Woelki, KH Grzeschik, S. Fuchs: Spectrum of the acrocallosal syndrome. In: American journal of medical genetics. Volume 108, Number 1, February 2002, pp. 7-11, ISSN  0148-7299 . PMID 11857542 .
  • E. Elson, R. Perveen, D. Donnai, S. Wall, GC Black: De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. In: Journal of medical genetics. Volume 39, Number 11, November 2002, pp. 804-806, ISSN  1468-6244 . PMID 12414818 . PMC 1735022 (free full text).
  • A. Schinzel: The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance. In: Journal of medical genetics. Volume 25, Number 5, May 1988, pp. 332-336, ISSN  0022-2593 . PMID 3385741 . PMC 1050460 (free full text).
  • Z. Gelman-Kohan, J. Antonelli, H. Ankori-Cohen, H. Adar, J. Chemke: Further delineation of the acrocallosal syndrome. In: European Journal of Pediatrics. Volume 150, Number 11, September 1991, pp. 797-799, ISSN  0340-6199 . PMID 1659985 .