syndromic disease ciliopathy eye disorder obsolete syndromic visceral malformation obsolete syndrome with a central nervous system malformation as major feature obsolete Mendelian syndromes with cleft lip/palate obsolete lethal multiple congenital anomalies/dysmorphic syndrome Meckel syndrome NCIT:C98978 GARD:0003436 OMIMPS:249000 MEDGEN:120513 UMLS:C0265215 icd11.foundation:695796893 ICD9:753.1 ICD9:753.10 Orphanet:564 Meckel-Gruber syndrome SCTID:29076005 A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. DOID:0050778 MONDO:0018921 ICD9:759.89 obsolete syndromic renal or urinary tract malformation familial cystic renal disease obsolete cerebral disease with cataract obsolete lens shape anomaly hereditary lethal multiple congenital anomalies/dysmorphic syndrome