TABLE 62-5 DIsorders Assoclated wlth Polycystlc and Multicystic KIdneys, Including DIsorders wIth Renal-Hepatic-Pancreatic Dysplasla Disorder Major Features Renal Anomaly Etiology Gene Acrorenal-mandibular Split hand/foot; genital, vertebral, rib Renal agenesis, ureteral anomalies, cystic AR (200980) and uterine anomalies kidney, renal dysplasia Asplenia with Bilateral right or left embryonic Renal dysplasia, cortical cysts AR(208530) cardiovascular primordia, asplenia, polysplenia complex heart anomalies, situs inversus Branchio-oto-renal Mixed hearing loss, Mondini Cystic dysplastic kidneys, renal agenesis, AD (113650) EYA1 (Melnick-Fraser) cochlear malformation, pinnae ectopia, ureteral anomalies SⅨ1 anomalies, branchial deft fistula SⅨ5 preauricular pits Campomelic Severe shortening and bowing of Renal dysplasia, polycystic kidneys AR(211890) Cumming type long bones, cervical lymphocele, vertebral anomalies, cystic dysplasia of liver and pancreas, shortgut, polysplenia, pulmonary hypoplasia, other anomalies Carnitine palmito Dysmorphic face, cardiomegaly Enlarged polycystic kidneys, dysplasic AR(608836) CPT2 transferase respiratory failure, hepatomegaly, renal parenchyma, lipid accumulation Deficiency lethal long digits, hypotonia in kidney, especially proximal neonatal hypoglycemia convoluted tubules double ureters Fry Neonatal lethal; diaphragmatic Renal dysplasia, cortical cys AR(229850) defects; distal digital hypoplasia distinct facial features. pulmonary hypoplasia; eye, brain and other anomalies Glutaric acidemia Multiple acyl-CoA dehydrogenase Renal dysplasia, multicystic kidneys AR (231680) ETFA type lI deficiency, cerebral dysplasia, ETFB fatty liver, biliary dysgenesis, ETFDH pancreatic dysplasia, Potter