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 | |
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Der dysproportionale Kleinwuchs ist eine Mesomelie. |
| Dysmorphie | |
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Typisch ist die Madlung Deformität des Handgelenks, die sich im Verlaufe des Kindesalters entwickelt. |
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Orphanet article Orphanet ID 240
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| 42. |
OMIM.ORG article Omim 127300
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