Pentalogy of Cantrell

Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.

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Narrow down the case reports

Total: 76 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (67.0%)	9839359	Infant with midline thoracoabdominal schisis and limb defects. Pivnick EK, Kaufman RA, Velagaleti GV, Gunther WM, Abramovici D. Teratology. 1998;58(5):205-8. [ Show abstract ] [ Hide abstract ]
		Phocomelia Bilateral cleft lip


		Abdomen Fatal Outcome Homo sapiens Infant, Newborn Limb Deformities, Congenital Respiratory Diaphragm Sternum Syndrome
2 (57.8%)	18947004	Trisomy 18 syndrome with incomplete Cantrell syndrome. Hou YJ, Chen FL, Ng YY, Hu JM, Chen SJ, Chen JY, Su PH. Pediatr Neonatol. 2008;49(3):84-7. [ Show abstract ] [ Hide abstract ]
		Micrognathia


		Adult Chromosomes, Human, Pair 18 Congenital Heart Defects Homo sapiens Male Respiratory Diaphragm Sternum Syndrome Trisomy
2 (57.8%)	17974172	[Pentalogy of Cantrell--a case report]. Vulkova A, Kovacheva K, Rosmanova R, Simeonova M. Akush Ginekol (Sofiia). 2007;46(6):41-3. [ Show abstract ] [ Hide abstract ]
		Microcephaly Micrognathia


		Adult Congenital Heart Defects Females Homo sapiens Infant, Newborn Pregnancy Syndrome
4 (45.9%)	1308371	Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. Carmi R, Boughman JA. Am J Med Genet. 1992;42(1):90-5. [ Show abstract ] [ Hide abstract ]
		Encephalocele Cleft lip


		Abdomen Cleft Palate Congenital Heart Defects Females Homo sapiens Infant Infant, Newborn Male Neural Tube Defects Respiratory Diaphragm Sternum
5 (43.6%)	24995190	Complete Pentalogy of Cantrell (POC) with Phocomelia and Other Associated Rare Anomalies. Jagtap SV, Shukla DB, Jain A, Jagtap SS. J Clin Diagn Res. 2014;8(5):FD04-5. [ Show abstract ] [ Hide abstract ]
		Phocomelia



6 (34.4%)	21961361	[Prenatal diagnosis of pentalogy of Cantrell associated to bilateral cleft lip. A case report]. Hernandez Castro F, Cortes Flores R, Ochoa Torres MA, Hernandez Herrera RJ, Luna Garcia S. Ginecol Obstet Mex. 2006;74(10):546-50. [ Show abstract ] [ Hide abstract ]
		Bilateral cleft lip


		Adult Ectopia Cordis Fatal Outcome Females Gestational Age Homo sapiens Infant, Newborn Male Pentalogy of Cantrell Pregnancy Ultrasonography, Prenatal
7 (32.1%)	29734561	A case of Cantrell syndrome diagnosed in the first trimester. Delibas IB, Isaoglu U, Tanriverdi EC, Yilmaz M. Clin Exp Obstet Gynecol. 2016;43(4):612-613. [ Show abstract ] [ Hide abstract ]
		Cleft lip


		Adult Females Homo sapiens Pentalogy of Cantrell Pregnancy Pregnancy Trimester, First Syndrome
8 (31.4%)	21484999	Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC. Am J Med Genet A. 2011;155A(5):1102-5. [ Show abstract ] [ Hide abstract ]
		Anophthalmia Caudal appendage
		PORCN
		c\|SUB\|C\|727\|T
		Females Focal Dermal Hypoplasia Homo sapiens Infant Mutation Severity of Illness Index
9 (30.6%)	26152022	Pentalogy of Cantrell accompanied by scoliosis and pes equinovarus deformity at 12 weeks gestation. Pekin AT, Kerimoglu OS, Yilmaz SA, Kebapcilar AG, Bakbak BG, Celik C. Clin Exp Obstet Gynecol. 2015;42(3):392-4. [ Show abstract ] [ Hide abstract ]
		Ventricular septal defect Scoliosis Equinovarus deformity


		Chorionic Villi Sampling Congenital Heart Defects Down Syndrome Females Gestational Age Homo sapiens Pentalogy of Cantrell Pregnancy Pregnancy Trimester, First Ultrasonography, Prenatal Young Adult
10 (26.3%)	15810010	Midline raphe, sternal cleft, and other midline abnormalities: a new dominant syndrome? Forzano F, Daubeney PE, White SM. Am J Med Genet A. 2005;135(1):9-12. [ Show abstract ] [ Hide abstract ]
		Long face


		Congenital Heart Defects Craniofacial Abnormalities Females Homo sapiens Male Middle Aged Sternum Syndrome Uterus

Phenotype(s) retrieved from Orphanet

Total: 25

HPO ID	Term	Frequency
HP:0000766	Abnormality of the sternum	Very frequent (99-80%)
HP:0000776	Congenital diaphragmatic hernia	Very frequent (99-80%)
HP:0001539	Omphalocele	Very frequent (99-80%)
HP:0001629	Ventricular septal defect	Very frequent (99-80%)
HP:0001697	Abnormal pericardium morphology	Very frequent (99-80%)
HP:0002564	obsolete Malformation of the heart and great vessels	Very frequent (99-80%)
HP:0001631	Atrial septal defect	Frequent (79-30%)
HP:0002089	Pulmonary hypoplasia	Frequent (79-30%)
HP:0000047	Hypospadias	Occasional (29-5%)
HP:0000104	Renal agenesis	Occasional (29-5%)
HP:0000110	Renal dysplasia	Occasional (29-5%)
HP:0000175	Cleft palate	Occasional (29-5%)
HP:0000202	Oral cleft	Occasional (29-5%)
HP:0000238	Hydrocephalus	Occasional (29-5%)
HP:0001171	Split hand	Occasional (29-5%)
HP:0001636	Tetralogy of Fallot	Occasional (29-5%)
HP:0001748	Polysplenia	Occasional (29-5%)
HP:0001883	Talipes	Occasional (29-5%)
HP:0002084	Encephalocele	Occasional (29-5%)
HP:0002323	Anencephaly	Occasional (29-5%)
HP:0002650	Scoliosis	Occasional (29-5%)
HP:0002992	Abnormality of tibia morphology	Occasional (29-5%)
HP:0006501	Aplasia/Hypoplasia of the radius	Occasional (29-5%)
HP:0011467	Absent gallbladder	Occasional (29-5%)
HP:0100335	Non-midline cleft lip	Occasional (29-5%)

Phenotype(s) retrieved from case reports

Total: 26

HPO ID	Term	# of case reports
HP:0010866	Abdominal wall defect	10
HP:0100790	Hernia	8
HP:0030769	Exencephaly	3
HP:0000528	Anophthalmia	2
HP:0001028	Hemangioma	2
HP:0001629	Ventricular septal defect	2
HP:0001698	Pericardial effusion	2
HP:0100548	Exstrophy	2
HP:0000141	Amenorrhea	1
HP:0000822	Hypertension	1
HP:0001746	Asplenia	1
HP:0001748	Polysplenia	1
HP:0001750	Single ventricle	1
HP:0002323	Anencephaly	1
HP:0002414	Spina bifida	1
HP:0002650	Scoliosis	1
HP:0002825	Caudal appendage	1
HP:0008070	Sparse hair	1
HP:0008110	Equinovarus deformity	1
HP:0008986	Agenesis of the diaphragm	1
HP:0009829	Phocomelia	1
HP:0010301	Spinal dysraphism	1
HP:0010309	Bifid sternum	1
HP:0010880	Increased nuchal translucency	1
HP:0100336	Bilateral cleft lip	1
HP:0100656	Thoracoabdominal wall defect	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID