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Syndromale Formen geistiger Behinderung

Syndromal forms of mental retardation

Zusammenfassung

Die geistige Behinderung bei syndromalen Krankheitsbildern kann sehr verschieden stark ausgeprägt sein. Auch können Betroffene mit dem gleichen Syndrom einen unterschiedlichen Schweregrad der geistigen Behinderung aufweisen. Die Diagnosestellung stellt eine große Herausforderung für den klinischen Genetiker dar, insbesondere wegen der unterschiedlichen phänotypischen Ausprägung. Neben einer exakten Erhebung der Familienanamnese und der körperlichen Befunde ist die Beachtung von Leitsymptomen wie Adipositas, Makrosomie, Mikrozephalie, prä- oder postnatalem Kleinwuchs oder spezifischer Fehlbildungsmuster hilfreich bei der klinischen Diagnostik. Die modernen zytogenetischen und molekularzytogenetischen Diagnostiken wie CGH-Array (CGH: „comparative genomic hybridization“) tragen dazu bei, eine ätiologische Klärung herbeizuführen und Krankheitsentitäten zu definieren.

Abstract

Mental retardation of varying degree is a major component of genetic syndromes. Affected individuals with the same disorder may show different degrees of mental retardation. Making a diagnosis is a great challenge for clinical geneticists, especially because of the wide clinical variability. Besides carefully evaluating the family history and conducting a clinical examination, consideration of guiding clinical signs – including obesity, macrosomy, microcephaly, prenatal or/and postnatal growth restriction, and multiple congenital anomalies – is very helpful in establishing the correct clinical diagnosis. Modern cytogenetic and molecular cytogenetic techniques help clarify the etiology and define new disease nosologies.

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Correspondence to G. Gillessen-Kaesbach.

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Gillessen-Kaesbach, G. Syndromale Formen geistiger Behinderung. medgen 21, 209–216 (2009). https://doi.org/10.1007/s11825-009-0164-9

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Schlüsselwörter

  • Syndrome mit geistiger Behinderung
  • CGH-Array
  • Leitsymptom Adipositas
  • Leitsymptom Makrozephalie und Makrosomie
  • Leitsymptom Mikrozephalie und multiple Fehlbildungen

Keywords

  • Syndromes with mental retardation
  • CGH array
  • Guiding sign obesity
  • Guiding sign macrocephaly and macrosomy
  • Guiding sign microcephaly with multiple congenital anomalies