Previously, GDF5 mutations have been shown to constitute the major cause of ACD Grebe and du Pan types [3–6], and BMPR1B mutations had been identified in single families with Grebe syndrome and a Grebe dysplasia-like phenotype with genital anomalies [8, 9]. The gene discussed is BMPR1B; the disease is Acromesomelic dysplasia, Grebe type.