Experience of a single center with congenital hepatic fibrosis: A review of the literature

Table 1 Syndromes with associated congenital hepatic fibrosis

Associated disorder	Genetic anomaly [chromosome (gene)]	Characteristic clinical features
Caroli syndrome	6p21.1-p12 (PKHD1 gene)	Caroli’s disease - ectasia or segmental dilatation of the larger intrahepatic ducts
Polycystic kidney disease	6p21.1-p12 (PKHD1 gene)	Progressive cystic dilation of the renal tubule (resulting in renal failure), hepatic cysts, cerebral aneurysms, cardiac valvular abnormalities
Joubert syndrome	9q34.3; 11p12-q13; 6q23 (AHI1 gene); 2q13 (NPHP1 gene); 12q21.32 (CEP290 or NPHP6 gene); 8q21 (TMEM67 gene); 16q12.2 (RPGRIP1L gene)	Cerebellar vermis hypoplasia retinitis pigmentosa, nystagmus, ataxia
Senior-Loken syndrome	2q13 (NPHP1, NPHP4, NPHP5 genes); 3q22 (NPHP3 gene)	Cerebellar ataxia and skeletal abnormalities, nephronophthisis, retinal dystrophy, sensorineural hearing loss
COACH syndrome	4p15.3 (CC2D2A gene)	Cerebellar vermis hypo/aplasia, oligophrenia, ataxia, coloboma, polydactyly
Cogan syndrome	2q13 (NPHP1 gene)	Oculomotor apraxia, nephronophthisis, cerebellar ataxia
Arima syndrome	Not yet established	Cerebellar vermis hypoplasia, renal abnormalities, psychomotor retardation
Meckel syndrome	17q23 (MKS1 gene); 8q (TMEM67 gene); 12q (CEP290 gene); 16q12.2 (RPGRIP1L gene); 4p15 (CC2D2A gene); 11q	Microcephaly, renal cystic disease, hypoplastic or ambiguous genitalia, polydactyly, congenital heart defect, cleft palate, ocular defects
Bardet-Biedl syndrome	11q13; 16q21; 3p12-q13 (ADP-ribosylation factor gene); 15q22.3; 2q31; 20p12 (MKKS gene); 4q27; 14q32.11 (tetratricopeptide repeat domain-containing gene); 7p14; 12q; 9q33.1; 4q27; 17q23 (MKS1 gene); 12q21.3 (CEP290 gene)	Rod-cone dystrophy (atypical retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction
Alstrom syndrome	2p13 (ALMS1 gene)	Childhood obesity congenital retinal dystrophy, sensorineural hearing loss, endocrinopathies, cardiomyopathy, renal failure
Oral-Facial-Digital type IV - Mohr-Majewski syndrome	Not yet established	Lobulated tongue, pseudo-cleft of lip, hyperplastic frenula, polydactyly, severe bilateral deafness