Neuhäuser-Syndrom

Klassifikation nach ICD-10
Q87.8 Sonstige näher bezeichnete angeborene Fehlbildungssyndrome, anderenorts nicht klassifiziert
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ICD-10 online (WHO-Version 2019)

Das Neuhäuser-Syndrom oder Megalokornea-Intelligenzminderung-Syndrom, engl. Megalocornea-Mental Retardation Syndrome oder kurz MMR Syndrome ist eine vererbbare Erkrankung mit Vergrößerung der Hornhaut (Megalokornea), Gesichts-Dysmorphien und epileptischen Anfällen.[1]

Die Bezeichnung bezieht sich auf den Erstautor des Erstbeschriebes von 1975, den deutschen Neuropädiater Gerhard Neuhäuser.[2][3]

Die Erkrankung ist nicht zu verwechseln mit dem Neuhäuser-Kaveggia-Syndrom (BD-Syndrom) oder dem Temtamy-Shalash-Syndrom.

Anscheinend handelt es sich um eine heterogene Krankheitsgruppe.[4] Von Verloes und Mitarbeitern wurde nachstehende Typisierung vorgeschlagen:[5]

Literatur

  • B. E. Gutiérrez-Amavizca, C. I. Juárez-Vázquez, R. Orozco-Castellanos, L. Arnaud, N. M. 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), Band 24, Nr. 2, 2013, S. 185–191, ISSN 1015-8146. PMID 24032289. (Review).

Einzelnachweise

  1. ↑ Eintrag zu Megalokornea-Intelligenzminderung-Syndrom. In: Orphanet (Datenbank für seltene Krankheiten)
  2. ↑ G. Neuhäuser, E. G. Kaveggia, T. D. France, J. M. Opitz: Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited. In: Zeitschrift für Kinderheilkunde, Band 120, Nr. 1, Juli 1975, S. 1–18, ISSN 0044-2917. PMID 1172332.
  3. ↑ Who named it
  4. ↑ Neuhäuser-Syndrom. In: Online Mendelian Inheritance in Man. (englisch)
  5. ↑ A. Verloes, H. Journel, C. Elmer, J. P. 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, Band 46, Nr. 2, April 1993, S. 132–137, ISSN 0148-7299. doi:10.1002/ajmg.1320460206. PMID 8484397. (Review).
  6. ↑ Y. Frank, M. Ziprkowski, A. Romano, R. Stein, M. B. Katznelson, B. Cohen, R. M. Goodman: Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome? In: Journal de génétique humaine, Band 21, Nr. 2, Juni 1973, S. 67–72, ISSN 0021-7743. PMID 4805907.
  7. ↑ S. A. Temtamy, J. Abdel-Hamid, F. Hussein, M. Abdel-Salam, N. Abdel-Mequid, E. H. A. Aboul-Ezz, M. E. Zaki: Megalocornea mental retardation syndrome (MMR): delineation of a new entity (MMR-2). (Abstract) In: American Journal of Human Genetics, Band 49, S. 125A, 1991.
  8. ↑ M. Frydman, M. Berkenstadt, A. Raas-Rothschild, R. M. Goodman: Megalocornea, macrocephaly, mental and motor retardation (MMMM). In: Clinical genetics, Band 38, Nr. 2, August 1990, S. 149–154, ISSN 0009-9163. PMID 2208767.

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