Hydroletalus 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 Hydroletalus syndrome (HLS) (from ancient Greek ὕδωρ hydor, hydro , German 'water' and Latin letum or letalis , lethal ' ) is a rare, heavy congenital malformation syndrome with main characteristics hydramnios , hydrocephalus , Polydactyly and multiple malformations of the inner Organs .

The first description comes from the year 1981 by the Finnish human geneticists Riitta Salonen, Riitta Herva and Reijo Norio.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive . The syndrome is mostly found in people of Finnish ancestry, with a frequency of 1 in 20,000 in Finland.

root cause

Of the disease are usually mutations in HYLS1 - gene on chromosome 11 locus q24.2 or rare in KIF7 gene on chromosome 15 locus q26.1 basis, both for proteins of cilia or centrioles code that are involved in the development of the midline structures.

Clinical manifestations

Clinical criteria are:

In addition, there may be changes in the lobe formation of the lungs , stenosis of the airways and malformations of the genital organs such as uterus didelphys and positional anomalies of the testicles .

diagnosis

Prenatal can by fine ultrasonic next to the hydramnios of hydrocephalus , cleft lip and palate , heart failure and Polydactyly be detected.

Differential diagnosis

The following are to be distinguished:

Therapy and prognosis

No treatment is known, only a few affected survive the first months of life.

literature

  • Q. Wei, Y. Zhang, C. Schouteden, Y. Zhang, Q. Zhang, J. Dong, V. Wonesch, K. Ling, A. Dammermann, J. Hu: The hydrolethalus syndrome protein HYLS-1 regulates formation of the ciliary gate. In: Nature Communications . Vol. 7, August 2016, p. 12437, doi: 10.1038 / ncomms12437 , PMID 27534274 , PMC 4992140 (free full text).
  • A. Putoux, S. Thomas, KL Coene, EE Davis, Y. Alanay, G. Ogur, E. Uz, D. Buzas, C. Gomes, S. Patrier, CL Bennett, N. Elkhartoufi, MH Frison, L. Rigonnot, N. Joyé, S. Pruvost, GE Utine, K. Boduroglu, P. Nitschke, L. Fertitta, C. Thauvin-Robinet, A. Munnich, V. Cormier-Daire, R. Hennekam, E. Colin, NA Akarsu, C. Bole-Feysot, N. Cagnard, A. Schmitt, N. Goudin, S. Lyonnet, F. Encha-Razavi, JP Siffroi, M. Winey, N. Katsanis, M. Gonzales, M. Vekemans, PL Beales, T. Attié-Bitach: KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. In: Nature genetics. Vol. 43, No. 6, June 2011, pp. 601-606, doi: 10.1038 / ng.826 , PMID 21552264 , PMC 3674836 (free full text).
  • KE Henkel, RA Pfeiffer, H. Stöss: Hydroletalus Syndrome. In: The Pathologist. Vol. 14, No. 1, January 1993, pp. 35-36, PMID 8451226 .

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 c d e f Hydroletalus. In: Orphanet (Rare Disease Database).
  3. ^ R. Salonen, R. Herva, R. Norio: The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. In: Clinical genetics. Vol. 19, No. 5, May 1981, pp. 321-330, PMID 7028327 .
  4. ↑ Hydrolethalus syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Hydrolethalus syndrome 2.  In: Online Mendelian Inheritance in Man . (English)

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