Neuhauser 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 Neuhauser syndrome or megalocorneal intellectual disability syndrome , engl. Megalocornea-Mental Retardation Syndrome or MMR Syndrome for short is an inherited disease with enlargement of the cornea ( megalocornea ), facial dysmorphism and epileptic seizures .

The name refers to the first author of the first description from 1975, the German neuropediatrist Gerhard Neuhäuser .

The disease should not be confused with Neuhäuser-Kaveggia syndrome (BD syndrome) or Temtamy-Shalash syndrome .

Apparently it is a heterogeneous group of diseases. The following typification was suggested by Verloes and colleagues:

  • Type I Neuhäuser , recessive with iris hypoplasia and minor anomalies
  • Type II Frank-Temtamy recessive with camptodactyly , scoliosis, and growth retardation
  • Type III Verloes recessive with normal iris, severe muscle hypotonia, macrocephaly, and minor abnormalities
  • Type IV possibly Frydman with normal iris, megalencephaly, and obesity .
  • Type V so far not classifiable

literature

  • BE Gutiérrez-Amavizca, CI Juárez-Vázquez, R. Orozco-Castellanos, L. Arnaud, NM Macías-Gómez, P. Barros-Nuñez: Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation. In: Genetic counseling (Geneva, Switzerland). Vol. 24, No. 2, 2013, pp. 185-191, ISSN  1015-8146 . PMID 24032289 . (Review).

Individual evidence

  1. ^ Neuhauser syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ G. Neuhäuser, EG Kaveggia, TD France, JM Opitz: Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited. In: Journal of Pediatrics. Vol. 120, No. 1, July 1975, pp. 1-18, ISSN  0044-2917 . PMID 1172332 .
  3. ↑ Who named it
  4. ^ Neuhauser syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ A. Verloes, H. Journel, C. Elmer, JP Misson, M. Le Merrer, J. Kaplan, L. Van Maldergem, H. Deconinck, F. Meire: Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes : report of new cases and delineation of 4 probable types. In: American journal of medical genetics. Vol. 46, No. 2, April 1993, pp. 132-137, ISSN  0148-7299 . doi: 10.1002 / ajmg.1320460206 . PMID 8484397 . (Review).
  6. ↑ Y. Frank, M. Ziprkowski, A. Romano, R. Stein, MB Katznelson, B. Cohen, RM Goodman: Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome? In: Journal de génétique humaine. Vol. 21, No. 2, June 1973, pp. 67-72, ISSN  0021-7743 . PMID 4805907 .
  7. ↑ SA Temtamy, J. Abdel-Hamid, F. Hussein, M. Abdel-Salam, N. Abdel-Mequid, EHA Aboul-Ezz, ME Zaki: Megalocornea mental retardation syndrome (MMR): delineation of a new entity (MMR- 2) . (Abstract) In: American Journal of Human Genetics Vol. 49, p. 125A, 1991.
  8. ^ M. Frydman, M. Berkenstadt, A. Raas-Rothschild, RM Goodman: Megalocornea, macrocephaly, mental and motor retardation (MMMM). In: Clinical genetics. Vol. 38, No. 2, August 1990, pp. 149-154, ISSN  0009-9163 . PMID 2208767 .

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