Leri-Layani-Weill-Syndrom ist ein mesomeler Kleinwuchs (Radius, Ulna, Tibia, Fibula) mit Störungen der Knochen- und Knorpelbildung und Madelung-Deformität. Der Erkrankung liegen Mutationen des SHOX-Gens zugrunde, welches sich auf beiden Gonosomen befindet. Das Vererbungsmuster ist je nach Mutation dominant oder rezessiv, auch die Penetranz ist variabel.
Wachstumsstörung | |
Der dysproportionale Kleinwuchs ist eine Mesomelie. |
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Dysmorphie | |
Typisch ist die Madlung Deformität des Handgelenks, die sich im Verlaufe des Kindesalters entwickelt. |
Kleinwuchs, SHOX-bedingt | ||||
Dyschondrosteosis Leri-Weill | ||||
SHOX | ||||
Langer-Mesomelie | ||||
X-chromosomaler familiärer Kleinwuchs | ||||
Y-chromosomaler familiärer Kleinwuchs | ||||
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32. |
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33. |
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38. |
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39. |
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41. |
Orphanet article Orphanet ID 240 |
42. |
OMIM.ORG article Omim 127300 |