Severe acro-renal-uterine-mandibular syndrome

Although limb and renal defects occur together in a variety of patterns of multiple malformations, familial cases of acro-renal disorders are rare. In 1980, Halal et al, [Am J Med Genet 5:277-284] described two sisters with u nusual limb deficiencies, renal anomalies, and mandibular hypoplasia and te rmed this condition acro-renal-mandibular syndrome. A girl reported earlier by Fitch and Lachance [1972; Can Med Assoc J 107:653-656] had similarly li mb and renal findings, but an apparently normal jaw. We document three sibs with unusual limb deficiencies, renal agenesis, uterine anomalies in the t wo females, and orofacial defects, who clearly have a similar but more seve re type of acrorenal disorder, apparently inherited as an autosomal recessi ve condition. The sibs with limb deficiencies and renal agenesis reported b y Hennekam et al, [1994; Am J Med Genet 53:102-107] appear to be additional cases of this very rare disorder, the pathogenesis of which may be related to abnormal epithelial-mesenchymal interactions, Am, J, Med, Genet. 93:67- 73, 2000, (C) 2000 Wiley-Liss, Inc.