An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts.
Two sisters had developmental retardation and congenital hepatic fibrosis. One, 23 years old, had facial anomalies reminiscent of Smith-Lemli-Opitz syndrome, ocular coloboma, and hypoplastic kidneys with a single cyst. The other sister died at 18 months and had an encephalocele and cystically dilated collecting ducts in the renal medulla. Although the manifestations in these two sisters are similar to the Smith-Lemli-Opitz and Meckel syndromes respectively, there are sufficient differences to suggest that they had a separate autosomal recessive MCA-MR syndrome.
D000293:Adolescent; D004677:Encephalocele; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D008099:Liver / Q000473:pathology; D008107:Liver Diseases / Q000151:congenital / Q000235:genetics*; D007690:Polycystic Kidney Diseases / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000002:abnormalities