Acro‐renal‐mandibular syndrome

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Abstract
We report two female sibs, with severe split‐hand/split‐foot malformation associated with renal and genital anomalies. The patients also have severe mandibular hypoplasia and some other, minor anomalies. The relationship to the acro‐renal “syndrome” in particular and to other phenotypes with similar malformations in general is discussed. Because of consanguinity in the parents, autosomal recessive inheritance seems likely. However, the presence of a septate uterus in the mother and a double collecting system in the only living sib could also suggest possible dominant inheritance with variable expressivity.