Noch 2197 Tage!
Statistische Auswertung
ZURÜCK
Fragilen X-Syndrom (Martin-Bell-Syndrom) (#R: -1; #F: 2)
• Intelligenzminderung
• Körpergröße zumeist im oberen Normbereich
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• deutlich vergrößerte Hoden
Hyperaktivität und autistisches Verhalten
Silver-Russell-Syndrom (#R: 0; #F: 1)
- intrauteriner Kleinwuch

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metachromatische Leukodystrophie (#R: -1; #F: 1)
Lipidspeicherkrankheit
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Smith-Lemli-Opitz-Syndroms (#R: 0; #F: 1)
• Mangel an 7-Dehydrocholesterol-Reduktase zugrunde, der zu einem Mangel an Cholesterin und einer Akkumulation von 7-Dehydrocholesterol im Plasma
Kleinwuchs, Lidptose, kurzer Nase mit aufgerichteten Nasenlöchern, Syndaktylie Hypospadie
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Zuelzer-Wilson-Syndrom (#R: 0; #F: 1)
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Angelman-Syndrom (#R: 1; #F: 0)
schwerer mentaler Retardierung, auffallender Fröhlichkeit (Merke: Angel=Engel) und auch schwerer Epilepsie
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Prader-Willi-Syndrom (#R: 1; #F: 0)
Mikrodeletionssyndromen

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Lipidspeicherkrankheiten
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Hypoparathyreoidismus
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X-chromosomal vererbte Störung des Purinstoffwechsels, die mit einer Überproduktion von Harnsäure einhergeht. Die Betroffenen zeigen typischerweise autoaggressives Verhalten mit Beißen in Hände und Lippen sowie Anschlagen von Körperteilen gegen harte Gegenstände. Weshalb es zur Automutilation kommt, ist bisher nicht bekannt.
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Obesitas-Hypoventilationssyndrom
Paramyotonia congenita (Eulenburg) (#R: 1; #F: 0)
defekter Natrium-Kanal der Muskelzellen autosomal-dominant vererbt.
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Morbilli (#R: 1; #F: 0)
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Rubeola (#R: 1; #F: 0)
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Arnold-Chiari-Anomalie (Typ II) (#R: 1; #F: 0)
Störung in der Organogenese, die zu Verlagerung von Anteilen des Kleinhirns und der Medulla oblongata nach kaudal führt. Es werden 4 Typen unterschieden, die sich in ihrem Ausmaß unterscheiden (z.B. Typ I: Verlagerung der Kleinhirntonsillen, Typ II: Tiefstand der Kleinhirntonsillen, des Hirnstammes und des 4. Ventrikels) und mit unterschiedlichen Fehlbildungen assoziiert vorliegen. Beim Typ II besteht eine Assoziation zur Spina bifida (Meningomyelozele).
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Blitz-Nick-Salaam-Anfälle (#R: 1; #F: 0)
= West-Syndrom
Blitzartige Myoklonien oder tonische Beugekrämpfe mit Kreuzen der Hände vor der Brust

- generalisierte Epilepsie
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X-chromosomal-rezessiv vererbter Defekt
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Neugeborenenalter
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- Flexionskontrakturen der Finger mit Überlagerung des Mittelfingers
- Nägel hypoplastisch

- Sternum kurz
- Mamillen stehen in weitem Abstand zueinander
Rett-Syndrom (#R: 1; #F: 0)
X-chromosomal-dominant vererbt

- anfänglich scheinbar normale Entwicklung
- später Verlust der Intelligenz und kognitiver Fähigkeiten
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- - Lokomotion und Gebrauchsfähigkeiten der Hände

- choreatiformen Bewegungen
- Hand-Mund-Stereotypien.
Williams-Beuren-Syndrom (#R: 1; #F: 0)
verzögerte kognitive Entwicklung und Intelligenzminderung

Auffällige Gesichtsform
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Arnold-Chiari-Fehlbildung (#R: 1; #F: 0)
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M. Klippel-Trénaunay (#R: 1; #F: 0)
Riesenwuchs (meist einer Extremität) und ein Lymphangiom.
Sturge-Weber-Syndrom (#R: 1; #F: 0)
Phakomatose

- Naevus flammeus im Gesichtsbereich
- - unilateral und immer inkl. Augenlid

- Gefäßmissbildungen der Choroidea und des ZNS aus

- Epilepsie
- - meist Blitz-Nick-Salaam-Anfälle
- - im Säuglingsalter West-Syndrom

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