Acro-renal-mandibular syndrome.
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.
D003241:Consanguinity; D005260:Female; D005532:Foot Deformities, Congenital; D005836:Genitalia, Female / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008334:Mandible / Q000002:abnormalities*; D009958:Orofaciodigital Syndromes / Q000235:genetics; D010375:Pedigree