Fryns Syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Fryns syndrome is a rare dysmorphic - syndrome with a combination of opacity of the cornea , hypoplasia of the lower extremities and diaphragmatic defect .

The syndrome is named after the person who first described it in 1979, the Belgian human geneticist Jean-Pierre Fryns .

distribution

The frequency is estimated at 0.7 in 10,000 births; inheritance is autosomal - recessive .

Clinical manifestations

Criteria are:

In addition, a number of malformations of the central nervous system such as arrhinencephaly can occur. The disease was originally described as lethal , but a small percentage survives when the pulmonary hypoplasia is less pronounced and complex heart defects are absent.

diagnosis

The diagnosis of a diaphragmatic hernia can already be made in the womb by the detection of a diaphragmatic hernia and a cystic hygroma .

Differential diagnosis

A distinction must be made between Pallister-Killian syndrome , which is caused by mostly sporadic chromosomal abnormalities, which is crucial for genetic counseling.

The Fryns syndrome is not the Fryns Hofkens-Fabry disease to be confused.

Prospect of healing

The extent of pulmonary hypoplasia determines viability.

See also

literature

  • A. Peron, MF Bedeschi, I. Fabietti, GM Baffero, R. Fogliani, F. Ciralli, F. Mosca, T. Rizzuti, E. Leva, F. Lalatta: Prenatal and postnatal findings in five cases of Fryns syndrome. In: Prenatal diagnosis. [Electronic publication before printing] July 2014, ISSN  1097-0223 . doi: 10.1002 / pd.4447 . PMID 24996149 .
  • U. Dix, U. Beudt, U. Langenbeck: Fryns syndrome - pre- and postnatal diagnosis. In: Journal of Obstetrics and Perinatology. Volume 195, Number 6, 1991 Nov-Dec, pp. 280-284, ISSN  0300-967X . PMID 1776320 .
  • KE Henkel, RA Pfeiffer, H. Stöss: [Genetic morphological fatal syndromes. The Fryns syndrome]. In: The Pathologist. Volume 14, Number 2, March 1993, pp. 92-93, ISSN  0172-8113 . PMID 8469652 .

Individual evidence

  1. ↑ a b 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. ↑ JP Fryns, F. Moerman, P. Goddeeris, C. Bossuyt, H. Van den Berghe: A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. In: Human genetics. Volume 50, Number 1, 1979, pp. 65-70, ISSN  0340-6717 . PMID 381161 .
  3. ^ A b S. Aymé, C. Julian, D. Gambarelli, B. Mariotti, A. Luciani, N. Sudan, N. Maurin, N. Philip, F. Serville, D. Carles: Fryns syndrome: report on 8 new cases. In: Clinical genetics. Volume 35, Number 3, March 1989, pp. 191-201, ISSN  0009-9163 . PMID 2650934 . (Review).
  4. ↑ a b c Fryns syndrome. In: Orphanet (Rare Disease Database).
  5. ^ Fryns syndrome.  In: Online Mendelian Inheritance in Man . (English)

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