Acrorenal-Mandibular Syndrome
Clinical Features
Halal et al. (1980) described a consanguineous French Canadian family in which 2 sisters had an unusual combination of limb deficiencies and renal anomalies. The first child had split feet and dysplastic polycystic kidneys in addition to a very hypoplastic mandible, right diaphragmatic hernia, and uterus didelphys. Her sister had split right hand and split feet, bilateral renal agenesis, uterus unicornis, rib and vertebral anomalies, and a hypoplastic mandible. The parents were second cousins. The mother had a septate uterus, while a healthy sister was found to have a right duplex renal collecting system. The limbs of the mother and the healthy sister were normal. Fitch (1981) called attention to an earlier report by Fitch and Lachance (1972) of a similarly affected girl who had split-hand and split-foot defects, bilateral renal hypoplasia, and a bicornuate uterus. The jaw was apparently normal.
Evans et al. (2000) reported a Canadian Aboriginal family in which 3 sibs, born to third-cousin parents, had a similar syndrome. The first affected sib died within 1 hour after birth. The third affected sib resulted from a spontaneous vaginal delivery of a macerated stillbirth at 34 weeks' gestation. Evans et al. (2000) reviewed 2 similarly affected sibs reported by Hennekam et al. (1994) as possible Bartsocas-Papas syndrome (263650). The disorder in the 5 cases of Evans et al. (2000) and Hennekam et al. (1994) appeared to have a more severe type of acrorenal disorder, inherited as an autosomal recessive.
Tobias et al. (2001) described what they considered to be the first male case of acrorenal-mandibular syndrome, in an 18-week-old fetus. The fetus had bilateral renal agenesis, marked mandibular hypoplasia, and a claw-like deformity of the left foot resulting from a combination of ectrodactyly, syndactyly, and polydactyly. The fetus also had a narrow head, downslanting palpebral fissures, slight webbing of the neck, low-set posteriorly rotated ears, a long flat philtrum, choanal stenosis, midflexion contractures of the left shoulder and elbow joints, and a varus deformity of the feet.
Girisha et al. (2012) reported another case of acrorenal-uterine-mandibular syndrome and reviewed previous reports of the disorder. They pointed out that the condition shares features of other syndromes with ectrodactyly and clefting (EEC1, 129900 and EEC3, 604292) and uterine and renal anomalies (MRKH syndrome, 277000).
InheritanceBecause of consanguinity in the French Canadian family reported by Halal et al. (1980), autosomal recessive inheritance is likely.