Die Brachydaktylie vom Typ B1 ist eine autosomal dominante Erkrankung, die durch Mutationen im ROR2-Gen hervorgerufen wird. Charakteristisch ist die Verkürzung der Endphalangen der Finger 2-5. Gelegentlich werden auch Nageldeformitäten beobachtet. Kleinwuchs und weitere Skelettabnormalitäten sind nicht so häufig zu beobachten.
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OMIM.ORG article Omim 113000 |