Likewise, radial/thumb anomalies observed in P2 are also reminiscent of Fanconi anaemia [MIM:PS227650] and ATR-related Seckel syndrome [MIM#210600], more rarely observed in LIG4-related MPD [31], Nijmegen [33] and Bloom syndromes [34]. The gene discussed is ATR; the disease is microcephalic primordial dwarfism.