Features include gastrointestinal signs (duodenal
atresia, imperforate anus, anal stenosis, anterior placement of anus,
rectovaginal/rectoperineal fistula), abnormality of the extremity (radial
ray deformities, broad thumb, bifid thumb, triphalangeal thumb, preaxial polydactyly,
syndactyly, fusion of metatarsals, absent/hypoplastic third toe, fifth toe
clinodactyly, pseudoepiphysis of second metacarpal), ear deformations
(overfolding of superior helix, large ears, preauricular tags, preauricular pits,
microtia satyr ear, sensorineural hearing), cardiovascular anomalies (e.g.,
tetralogy of Fallot or ventricular septal defect), microcephaly (with some cases
of mental retardation), and multiple genitourinarydeformations
(hypospadias, bifid scrotum, prominent midline perineal raphe, hypoplastic kidneys,
vesicoureteral reflux, urethral valves, multicystic kidneys, dysplastic kidneys,
renal failure).