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Cantrell pentalogy

General Information (adopted from Orphanet):

Synonyms, Signs:	PENTALOGY OF CANTRELL, INCLUDED TAS MIDLINE DEFECTS, X-LINKED, INCLUDED THAS Thoraco-abdominal syndrome
Number of Symptoms	37
OrphanetNr:	1335
OMIM Id:	313850
ICD-10:	Q89.7
UMLs:	C0559483
MeSH:	D058502
MedDRA:
Snomed:	281587000

Prevalence, inheritance and age of onset:

Prevalence:	0.55 of 100 000 [Orphanet]
Inheritance:	Not applicable [Orphanet]
Age of onset:	Antenatal Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare developmental defect during embryogenesis
Syndromic diaphragmatic or abdominal wall malformation
-Rare abdominal surgical disease
-Rare developmental defect during embryogenesis
Syndromic diaphragmatic or thoracic malformation
-Rare surgical thoracic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000047)	Hypospadias	Occasional [Orphanet]	250 / 7739
2	(HPO:0000107)	Renal cyst	Occasional [Orphanet]	126 / 7739
3	(HPO:0008678)	Renal hypoplasia/aplasia	Occasional [Orphanet]	127 / 7739
4	(HPO:0000104)	Renal agenesis		68 / 7739
5	(HPO:0000202)	Oral cleft	Occasional [Orphanet]	120 / 7739
6	(HPO:0002084)	Encephalocele	Occasional [Orphanet]	70 / 7739
7	(HPO:0000476)	Cystic hygroma		22 / 7739
8	(HPO:0000174)	Abnormality of the palate	Occasional [Orphanet]	298 / 7739
9	(HPO:0000204)	Cleft upper lip	Occasional [Orphanet]	193 / 7739
10	(HPO:0000175)	Cleft palate		349 / 7739
11	(HPO:0009380)	Aplasia of the fingers	Occasional [Orphanet]	51 / 7739
12	(HPO:0002992)	Abnormality of the tibia	Occasional [Orphanet]	51 / 7739
13	(HPO:0000766)	Abnormality of the sternum	Very frequent [Orphanet]	31 / 7739
14	(HPO:0001762)	Talipes equinovarus	Occasional [Orphanet]	309 / 7739
15	(HPO:0002650)	Scoliosis	Occasional [Orphanet]	705 / 7739
16	(HPO:0002818)	Abnormality of the radius	Occasional [Orphanet]	96 / 7739
17	(HPO:0000775)	Abnormality of the diaphragm	Very frequent [Orphanet]	62 / 7739
18	(HPO:0001743)	Abnormality of the spleen	Occasional [Orphanet]	37 / 7739
19	(HPO:0000776)	Congenital diaphragmatic hernia		36 / 7739
20	(HPO:0002933)	Ventral hernia		2 / 7739
21	(HPO:0005264)	Abnormality of the gallbladder	Occasional [Orphanet]	14 / 7739
22	(HPO:0001539)	Omphalocele	Very frequent [Orphanet]	102 / 7739
23	(HPO:0001629)	Ventricular septal defect	Very frequent [Orphanet]	316 / 7739
24	(HPO:0030680)	Abnormality of cardiovascular system morphology	Very frequent [Orphanet]	355 / 7739
25	(HPO:0001631)	Atria septal defect	Frequent [Orphanet]	274 / 7739
26	(HPO:0001643)	Patent ductus arteriosus		228 / 7739
27	(HPO:0001683)	Ectopia cordis		3 / 7739
28	(HPO:0001697)	Abnormality of the pericardium	Very frequent [Orphanet]	52 / 7739
29	(HPO:0001669)	Transposition of the great arteries		36 / 7739
30	(HPO:0001636)	Tetralogy of Fallot	Occasional [Orphanet]	104 / 7739
31	(HPO:0002089)	Pulmonary hypoplasia		80 / 7739
32	(HPO:0006703)	Aplasia/Hypoplasia of the lungs	Frequent [Orphanet]	79 / 7739
33	(HPO:0011420)	Death	Frequent [Orphanet]	184 / 7739
34	(HPO:0000238)	Hydrocephalus	Occasional [Orphanet]	278 / 7739
35	(HPO:0001417)	X-linked inheritance		173 / 7739
36	(HPO:0002323)	Anencephaly	Occasional [Orphanet]	28 / 7739
37	(OMIM)	Sternal fusion defects		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Carmi et al. (1990) suggested X-linked dominant inheritance for a previously undescribed malformation syndrome. The features were diaphragmatic and ventral hernias, hypoplastic lung, and cardiac anomalies such as transposition of the great vessels and patent ductus arteriosus (see ... Carmi et al. (1990) suggested X-linked dominant inheritance for a previously undescribed malformation syndrome. The features were diaphragmatic and ventral hernias, hypoplastic lung, and cardiac anomalies such as transposition of the great vessels and patent ductus arteriosus (see 607411). Carmi et al. (1990) pointed out that another syndrome that combines defects of the abdominal wall and the diaphragm is the sporadic pentalogy of Cantrell (Cantrell et al., 1958). Although the abdominal wall defect, even in its severe form, was equally present in females and males, the diaphragmatic and lung anomalies were mostly confined to males. In 7 of 10 affected males, these anomalies were fatal. Cardiovascular abnormalities were not diagnosed in any living affected member of the family. Carmi et al. (1990) described a family in which 4 male fetuses had cystic hygroma, cleft palate, omphalocele, or diaphragmatic hernia in various combinations. Toriello and Higgins (1985) described a kindred in which 5 males in as many sibships, related through women, had 6 different defects which were all either midline or midline-associated malformations: hydrocephalus, anencephaly, cleft lip, congenital heart defect, renal agenesis, and hypospadias. Toriello and Higgins (1985) postulated that the midline may be a developmental field as suggested by Opitz and Gilbert (1982), and that a single gene mutation, in this instance on the X chromosome, had disrupted development. Carmi and Boughman (1992) ascertained 5 cases of pentalogy of Cantrell through the Baltimore-Washington population-based study of infants with congenital cardiovascular malformations--a regional prevalence of 5.5 per 1 million liveborn infants. Three of the patients had cleft lip with or without cleft palate. Carmi and Boughman (1992) again proposed this as evidence of a ventral midline developmental field. At least 2 of the 5 patients were female (a third was stated to be female in Table I but by implication in the text to be male). Martin et al. (1992) indicated that the association of sternal fusion defects with various cardiac, diaphragmatic, and anterior body wall defects represents a developmental field complex that includes the pentalogy of Cantrell and ectopia cordis. They presented a family in which 3 consecutively born brothers had extensive diaphragmatic defects; 2 of the brothers had the pentalogy of Cantrell and 1 of these 2 also had ectopia cordis. Maas et al. (2009) described 2 women with Goltz-Gorlin syndrome, or focal dermal hypoplasia (FDH; 305600), who had 1 and 2 female fetuses, respectively, with a phenotype resembling either the limb-body wall complex (see 217100) or the pentalogy of Cantrell. Maas et al. (2009) suggested that some cases with the latter diagnoses may in fact be severely affected fetuses with Goltz-Gorlin syndrome. Smigiel et al. (2011) reported an infant girl with genetically confirmed Goltz-Gorlin syndrome, with findings including sparse hair, clinical anophthalmia, clefting, bifid nose, irregular vermilion of both lips, asymmetric limb malformations, caudal appendage, linear aplastic skin defects, and unilateral hearing loss. The infant also had features of the pentalogy of Cantrell, including absent lower sternum, anterior diaphragmatic hernia, ectopia cordis, and omphalocele. Smigiel et al. (2011) stated that this was the third patient reported to have this combination of features.

Symptoms & Signs

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