Aliases & Classifications for Sirenomelia

MalaCards integrated aliases for Sirenomelia:

Name: Sirenomelia 52 29 6 71
Mermaid Malformation 52
Sirenomelia Sequence 52
Fused Legs and Feet 52
Mermaid Syndrome 52
Sirenomelus 52

Classifications:



External Ids:

UMLS 71 C0037205

Summaries for Sirenomelia

NIH Rare Diseases : 52 Sirenomelia is a birth defect in which affected infants are born with a single lower extremity or with two legs that are fused together. The symptoms and physical findings associated with the condition vary greatly among affected individuals and may include malformations of the spine and skeletal system (commonly with vertebrae either absent or defective); absent or underdeveloped internal and external sex organs , rectum, kidneys and/or bladder; closed rectal opening (imperforate anus); and other abnormalities of the lower gastrointestinal tract. The exact cause is unknown, but it is believed to result from irregularities in early development of the blood circulating system within the embryo. Surgery has been successful in separating joined legs. Other treatment is symptomatic and supportive.

MalaCards based summary : Sirenomelia, also known as mermaid malformation, is related to caudal regression-sirenomelia spectrum and sacral defect with anterior meningocele. An important gene associated with Sirenomelia is CDX2 (Caudal Type Homeobox 2). Affiliated tissues include kidney, heart and bone, and related phenotypes are renal hypoplasia/aplasia and anal atresia

Wikipedia : 74 Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused... more...

Related Diseases for Sirenomelia

Diseases related to Sirenomelia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 71, show less)
# Related Disease Score Top Affiliating Genes
1 caudal regression-sirenomelia spectrum 12.4
2 sacral defect with anterior meningocele 11.8
3 selig benacerraf greene syndrome 11.6
4 renal hypodysplasia/aplasia 1 10.8
5 oligohydramnios 10.7
6 anus, imperforate 10.5
7 vacterl association 10.5
8 potter's syndrome 10.5
9 renal dysplasia 10.4
10 neural tube defects 10.4
11 anencephaly 10.4
12 esophageal atresia 10.3
13 vater/vacterl association 10.3
14 holoprosencephaly 10.3
15 craniorachischisis 10.3
16 cleft palate, isolated 10.2
17 hemifacial microsomia 10.2
18 omphalocele 10.2
19 situs inversus 10.2
20 cleft lip 10.2
21 lipomyelomeningocele 10.1
22 cloacal exstrophy 10.1
23 tracheoesophageal fistula with or without esophageal atresia 10.1
24 vacterl association with hydrocephalus 10.1
25 scoliosis 10.1
26 myelomeningocele 10.1
27 renal hypoplasia 10.1
28 intestinal atresia 10.1
29 gestational diabetes 10.1
30 47,xyy 10.1
31 axial mesodermal dysplasia spectrum 10.1
32 limb-body wall complex 10.1
33 cleft lip/palate 10.1
34 alobar holoprosencephaly 10.1
35 thumb deformity 10.0
36 hair whorl 10.0
37 duodenal atresia 10.0
38 hydrocephalus, congenital, 1 10.0
39 thoracoabdominal syndrome 10.0
40 exstrophy of bladder 10.0
41 retinitis pigmentosa 11 10.0
42 polydactyly 10.0
43 cyanosis, transient neonatal 10.0
44 leptin deficiency or dysfunction 10.0
45 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
46 hypogonadotropic hypogonadism 10.0
47 microphthalmia 10.0
48 hydrocephalus 10.0
49 hydronephrosis 10.0
50 respiratory failure 10.0
51 chlamydia 10.0
52 olivopontocerebellar atrophy 10.0
53 blount's disease 10.0
54 teratoma 10.0
55 infertility 10.0
56 skin tag 10.0
57 neuroblastoma 10.0
58 dextrocardia 10.0
59 hypoplastic left heart syndrome 10.0
60 acardia 10.0
61 craniofacial microsomia 10.0
62 dextrocardia with situs inversus 10.0
63 double inferior vena cava 10.0
64 exencephaly 10.0
65 horseshoe kidney 10.0
66 triploidy 10.0
67 abdominal wall defect 10.0
68 myelocystocele 10.0
69 amelia 10.0
70 atelencephaly 10.0
71 microtia 10.0

Graphical network of the top 20 diseases related to Sirenomelia:



Diseases related to Sirenomelia

Symptoms & Phenotypes for Sirenomelia

Human phenotypes related to Sirenomelia:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 renal hypoplasia/aplasia 31 hallmark (90%) HP:0008678
2 anal atresia 31 hallmark (90%) HP:0002023
3 ambiguous genitalia 31 hallmark (90%) HP:0000062
4 absence of the sacrum 31 hallmark (90%) HP:0010305
5 sirenomelia 31 hallmark (90%) HP:0010497
6 abnormality of the cardiovascular system 31 frequent (33%) HP:0001626
7 tracheoesophageal fistula 31 frequent (33%) HP:0002575
8 spina bifida 31 frequent (33%) HP:0002414
9 aplasia/hypoplasia of the radius 31 frequent (33%) HP:0006501

Drugs & Therapeutics for Sirenomelia

Search Clinical Trials , NIH Clinical Center for Sirenomelia

Genetic Tests for Sirenomelia

Genetic tests related to Sirenomelia:

# Genetic test Affiliating Genes
1 Sirenomelia 29

Anatomical Context for Sirenomelia

MalaCards organs/tissues related to Sirenomelia:

40
Kidney, Heart, Bone, Spinal Cord, Colon, Liver, Fetal Liver

Publications for Sirenomelia

Articles related to Sirenomelia:

(showing 331, show less)
# Title Authors PMID Year
1
Sirenomelia (Mermaid Syndrome): A Case Report. 61
32525213 2020
2
Exome sequencing identifies the first genetic determinants of sirenomelia in humans. 61
32058622 2020
3
First-trimester sonographic diagnosis of sirenomelia: A multicenter series of 12 cases and review of the literature. 61
32040213 2020
4
Sirenomelia, case report and review of the literature. 61
32216506 2020
5
A Rare Case Report of Sirenomelia Following Intracytoplasmic Sperm Injection Embryo Transfer. 61
32577073 2020
6
Sirenomelia and maternal chlamydia trachomatis infection: a case report and review. 61
31213098 2019
7
Sirenomelia (mermaid syndrome): a rare congenital disorder. 61
31767602 2019
8
Tale of a mermaid. 61
31611453 2019
9
Sirenomelia associated with an anterior abdominal wall defect: a case report. 61
31300067 2019
10
A Case of Sirenomelia: A Mermaid Baby. 61
30956482 2019
11
A Case of Type I Sirenomelia Complicated by Severe Oligohydramnios in the First Trimester. 61
31956455 2019
12
Sirenomelia in twin pregnancy: A case report and literature review. 61
30572488 2018
13
Sirenomelia: A Case Report. 61
31065147 2018
14
Mermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity. 61
30443435 2018
15
Sirenomelia with VACTERL association-a rare anomaly. 61
29031871 2018
16
History and highlights of the teratological collection in the Museum Anatomicum of Leiden University, The Netherlands. 61
29399953 2018
17
Mermaid Syndrome: A Case Report in Mauritius. 61
29686952 2018
18
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis. 61
30622827 2018
19
Fetal Sirenomelia Associated with an Abdominal Cyst Originating from a Saccular Cloaca. 61
29707395 2018
20
A Case of Sirenomelia Associated with Hypoplastic Left Heart with a Healthy Co-Twin: A Rare Entity. 61
30079256 2018
21
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study. 61
29390297 2017
22
Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report. 61
28693936 2017
23
Sirenomelia associated with Hypoplastic Left Heart in a Newborn. 61
28924546 2017
24
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies. 61
28509418 2017
25
Prenatal diagnosis of sirenomelia in the second trimester of pregnancy using two-dimensional ultrasound, three-dimensional ultrasound and magnetic resonance imaging. 61
28670035 2017
26
Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report. 61
29033614 2017
27
Sirenomelia: Expansion of the Phenotype. 61
26515295 2016
28
Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis. 61
27062024 2016
29
Exposure to methylergonovine maleate as a cause of sirenomelia. 61
27086509 2016
30
Fetal MR Imaging Analysis of Sirenomelia with Clinico Radiographic Correlation: A Case Report. 61
27504380 2016
31
Prenatal diagnosis of sirenomelia in the first trimester: A case report. 61
28913090 2016
32
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. 61
25845272 2016
33
Routine screening for fetal limb abnormalities in the first trimester. 61
26573084 2016
34
Dermatoglyphics in kidney diseases: a review. 61
27066327 2016
35
Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound. 61
26670448 2015
36
Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS). 61
26171959 2015
37
Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature. 61
26266174 2015
38
Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital. 61
25976191 2015
39
Sirenomelia or mermaid syndrome. 61
26112858 2015
40
Sirenomelia: The mermaid syndrome: Report of two cases. 61
25810681 2015
41
Sirenomelia: two cases in Cali, Colombia. 61
25636631 2015
42
FOUR CASES OF SIRENOMELIA WITH DIFFERENT MANIFESTATION. 61
26625671 2015
43
Sirenomelia with upper limb malformation: a case report and review of the literature. 61
26411229 2015
44
Sirenomelia and severe caudal regression syndrome. 61
25551110 2014
45
Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT). 61
25313840 2014
46
Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia. 61
25044506 2014
47
Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases. 61
24656289 2014
48
Diagnosis of sirenomelia in the first trimester. 61
24281983 2014
49
Sirenomelia with oesophageal atresia: a rare association. 61
24701519 2014
50
A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother. 61
25322991 2014
51
[Sirenomelia (Mermaid syndrome): description of the first Congolese cases and review of the literature]. 61
25120875 2014
52
Fetal MRI as a complementary technique after prenatal diagnosis of persistent vitelline artery in an otherwise normal fetus. 61
23836580 2013
53
Three-dimensional sonography of sirenomelia at 10 and 12 weeks' gestation. 61
23980232 2013
54
Conjoined legs: Sirenomelia or caudal regression syndrome? 61
23960288 2013
55
Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus. 61
23625330 2013
56
Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy. 61
23776071 2013
57
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? 61
22643051 2013
58
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. 61
23526679 2013
59
Congenital malformations in perinatal autopsy: a two-year prospective study. 61
24003564 2013
60
Short-term surviving sirenomelia neonate followed by a complex mesodermal malformation in a sibling. 61
23365163 2013
61
Severe Sirenomelia following frozen-thawed embryo transfer cycle. 61
22865038 2013
62
Sirenomelia apus after trimethoprim exposure: first-trimester ultrasound diagnosis-a case report. 61
22467597 2012
63
Sirenomelia: a rare case of foetal congenital anomaly. 61
24027732 2012
64
Sirenomelia: case reports and current concepts of pathogenesis. 61
22816558 2012
65
Adnexal Torsion in Pregnancy after Assisted Reproduction - Case Study and Review of the Literature. 61
25258463 2012
66
Sirenomelia sequence with other rare congenital anomalies. 61
22415493 2012
67
Sirenomelia apus: a rare deformity. 61
24027712 2012
68
Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America). 61
22628363 2012
69
Sirenomelia: four further cases with discussion of associated upper limb defects. 61
22660421 2012
70
Sirenomelia and caudal malformations in two families. 61
22522670 2012
71
Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3). 61
22639997 2012
72
[Sirenomelia--a rare cause of an oligoanhydramnion in the second trimester--a case report]. 61
22331526 2012
73
Sirenomelia: a rare presentation. 61
26023366 2012
74
Sirenomelia: Mermaid deformity on fetal MR imaging. 61
27326269 2012
75
Sirenomelia: adding something new. 61
26023368 2012
76
Sirenomelia in a Cameroonian woman: a case report and review of the literature. 61
24627759 2012
77
Reduced BMP signaling results in hindlimb fusion with lethal pelvic/urogenital organ aplasia: a new mouse model of sirenomelia. 61
23028455 2012
78
Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations. 61
23028704 2012
79
Magnetic resonance imaging demonstration of sirenomelia in one fetus of a dizygotic twin pregnancy conceived by intracytoplasmic sperm injection, in vitro fertilization and embryo transfer. 61
22212341 2011
80
[Diagnostic value of power Doppler ultrasonography for Sirenomelia Seguence in prenatal]. 61
22332561 2011
81
Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. 61
22002878 2011
82
Very rare defects: what can we learn? 61
22002945 2011
83
Prenatal diagnosis of sirenomelia in the late second trimester with three-dimensional helical computed tomography. 61
21892002 2011
84
Sirenomelia in a Nigerian triplet: a case report. 61
21888626 2011
85
Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia. 61
21815245 2011
86
[Sirenomelia apus. Case report]. 61
21966849 2011
87
Sirenomelia. 61
21952334 2011
88
A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations. 61
21504909 2011
89
[Major birth defects in a third-level hospital in Cali, Colombia, 2004-2008]. 61
22030798 2011
90
[From teratology to mythology: ancient legends]. 61
21074387 2010
91
Sirenomelia--sympus unipus (mermaid deformity). 61
20706712 2010
92
Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review. 61
21416043 2010
93
Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. 61
20734338 2010
94
Sirenomelia and VACTERL association in the offspring of a woman with diabetes. 61
20583159 2010
95
Sirenomelia. 61
20642932 2010
96
Sirenomelia. 61
22953255 2010
97
Sirenomelia with oligodactylia: early ultrasonographic and hysteroscopic embryoscopic diagnosis during the first trimester of gestation. 61
20501973 2010
98
The sirenomelia sequence: a case history. 61
21769253 2010
99
Sirenomelia, the Mermaid syndrome: case report and a brief review of literature. 61
19813692 2009
100
Sirenomelia. 61
19805983 2009
101
Associated malformations in patients with esophageal atresia. 61
19410022 2009
102
A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele. 61
22439043 2009
103
Sirenomelia (mermaid syndrome): an infant from parents who used a special form of snuff. 61
19634478 2009
104
Angiographic demonstration of an aberrant abdominal umbilical artery in a patient with penoscrotal transposition and caudal regression. 61
18795221 2009
105
Clusters of sirenomelia in South America. 61
18712806 2009
106
First trimester diagnosis of sirenomelia by 2D and 3D ultrasound. 61
19816030 2009
107
Sirenomelia: a case report. 61
19588689 2009
108
Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum? 61
19365740 2009
109
Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review. 61
19099562 2008
110
First trimester diagnosis of sirenomelia: a case report and review of the literature. 61
18360750 2008
111
Sirenomelia and cyclopia cluster in Cali, Colombia. 61
18798307 2008
112
Sirenomelia (mermaid syndrome): a rare anomaly. 61
19858681 2008
113
[Sirenomelia as a part of VACTERL association: a study of three cases]. 61
18706355 2008
114
Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis. 61
18470923 2008
115
A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail. 61
19239086 2008
116
Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants. 61
17999408 2008
117
Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum. 61
17963219 2007
118
Crossed fused renal ectopia with segmental fusion of bilateral ureters and abdominal aortic anomalies in a patient with caudal regression syndrome. 61
17968797 2007
119
[Sonographic diagnosis of caudal regression syndrome]. 61
17918049 2007
120
Associated malformations in patients with anorectal anomalies. 61
17572165 2007
121
Sirenomelia: a case report. 61
17883073 2007
122
Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation. 61
16983560 2007
123
Dizygotic twin pregnancy discordant for sirenomelia. 61
17182714 2007
124
First trimester diagnosis of sirenomelia. 61
16752437 2006
125
Sirenomelia: MRI appearance. 61
16855327 2006
126
Multidisciplinary surgical approach to a surviving infant with sirenomelia. 61
16801393 2006
127
Sirenomelia with agenesis of corpus callosum. 61
16859065 2006
128
Caudal regression sequence: vascular origin? 61
16801960 2006
129
Beyond the myth: the mermaid syndrome from Homerus to Andersen. A tribute to Hans Christian Andersen's bicentennial of birth. 61
16423484 2006
130
Sirenomelia of an intracytoplasmic sperm injection conceptus: a case report and review of mechanism. 61
16944978 2006
131
High-resolution sonographic diagnosis of sirenomelia. 61
16567449 2006
132
[Prenatal diagnosis of sirenomelia]. 61
16575365 2006
133
Sirenomelia in a monoamniotic twin: a case report. 61
16572916 2006
134
Sirenomelia (Mermaid baby). 61
16300717 2005
135
Surviving sirenomelia. 61
16239660 2005
136
Sirenomelia (symelia dipus). 61
15891879 2005
137
Two cases of a fetus with sirenomelia sequence. 61
16131367 2005
138
Combined aortic and inferior vena caval coarctation --an unknown association. 61
16168901 2005
139
Sirenomelia in Bmp7 and Tsg compound mutant mice: requirement for Bmp signaling in the development of ventral posterior mesoderm. 61
15843411 2005
140
A morpho-etiological description of congenital limb anomalies. 61
16119523 2005
141
Sirenomelia apus with vestigial tail. 61
15876775 2005
142
The role of color and power Doppler ultrasound in the prenatal diagnosis of sirenomelia. 61
15517539 2004
143
Rare manifestations of sirenomelia syndrome: a report of five cases. 61
15476130 2004
144
Mermaid syndrome: virtually no hope for survival. 61
15221362 2004
145
Sirenomelia with radial dysplasia. 61
15163879 2004
146
Sirenomelia with an angiomatous lumbosacral myelocystocele in a full-term infant. 61
15116133 2004
147
Sirenomelia. 61
15004311 2004
148
Caudal regression syndrome and sirenomelia in only one twin in two diabetic pregnancies. 61
15266776 2004
149
Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia. 61
12884429 2003
150
A surviving infant with sirenomelia (Mermaid syndrome) associated with absent bladder. 61
12891511 2003
151
Sirenomelia. 61
12940384 2003
152
Sirenomelia, the mermaid syndrome--detection in the first trimester. 61
12813764 2003
153
Anorectal anomaly associated with caudal regression: late evaluation after posterior sagittal anorectoplasty. 61
12721739 2003
154
Embryonic origin of the caudal mesenteric artery in the mouse. 61
12552635 2003
155
Mermaid syndrome with amniotic band disruption. 61
12619964 2003
156
Sirenomelia dipus in a dizygotic twin. 61
12557967 2002
157
An interesting rare case of sirenomelia. 61
12793639 2002
158
Sirenomelia in one of Nigerian monochorionic twins. 61
15027784 2002
159
Defects of blastogenesis. 61
12503120 2002
160
Heterotopic nephrogenic rests in the colon and multiple congenital anomalies: possibly related association. 61
12375130 2002
161
Type II single umbilical artery (persistent vitelline artery) in an otherwise normal fetus. 61
12424772 2002
162
Sirenomelia sequence: first-trimester diagnosis with both two- and three-dimensional sonography. 61
12164577 2002
163
Caudal regression syndrome versus sirenomelia: a case report. 61
11896526 2002
164
Sirenomelia in uneventful pregnancy. 61
12171318 2002
165
Sirenomelia sequence associated with craniorachischisis totalis, limb reduction and primitive heart. 61
11568383 2001
166
First-trimester diagnosis of sirenomelia. A case report. 61
11509850 2001
167
Therapy in unilateral sirenomelia: report of one case. 61
11497371 2001
168
Sirenomelia: early prenatal diagnosis with combined two- and three-dimensional sonography. 61
11422982 2001
169
[Sirenomelia sequence]. 61
11528941 2001
170
The retinoic acid-metabolizing enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures. 61
11157778 2001
171
Prenatal diagnosis of Caudal Regression Syndrome : a case report. 61
11782287 2001
172
Sirenomelia with esophageal atresia. 61
11436149 2000
173
Type 1 sirenomelia in one of male twins, with imperforate anus in the other male twin. 61
10955487 2000
174
Development of the bones and synovial joints in the rat model of the VATER association. 61
10982690 2000
175
[Cynocephali and Blemmyae. Congenital anomalies and medieval exotic races]. 61
10633800 1999
176
Caudal dysgenesis in staged human embryos: Carnegie stages 16-23. 61
10533025 1999
177
Sirenomelia sequence (mermaid syndrome). 61
10643096 1999
178
[Prenatal diagnosis of sirenomelia]. 61
10096177 1999
179
Sirenomelia. Pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. 61
10333372 1999
180
Sirenomelia without vitelline artery steal. 61
17344743 1998
181
Cryptorchidism as a caudal developmental field defect. A new description of cryptorchidism associated with malformations and dysplasias of the kidneys, the ureters and the spine from T10 to S5. 61
9833697 1998
182
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies. 61
9800911 1998
183
Using polymerase chain reaction for rapid sex-determination of a case of sirenomelia. 61
9695307 1998
184
Sirenomelia sequence versus renal agenesis: prenatal differentiation with power Doppler ultrasound. 61
9674093 1998
185
Sirenomelia with an uncommon osseous fusion associated with a neural tube defect. 61
9569262 1998
186
[Sirenomelia--prenatal diagnosis and clinical consequences of a rare abnormality]. 61
9715528 1998
187
Sirenomelia. 61
9828559 1998
188
Cyclopia and sirenomelia in a liveborn infant. 61
9541120 1998
189
Prenatal diagnosis of sirenomelia with bilateral hydrocephalus: report of a previously undocumented form of VACTERL-H association. 61
9572377 1998
190
Retinoic acid-induced caudal regression syndrome in the mouse fetus. 61
9535508 1998
191
[Sirenomelia: the sequence of undevelopment of cloacal membranes]. 61
9650388 1998
192
Single aberrant umbilical artery in a fetus with severe caudal defects: sirenomelia or caudal dysgenesis. 61
9098492 1997
193
Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth. 61
9132501 1997
194
Sirenomelia, limb reduction defects, cardiovascular malformation, renal agenesis in an infant born to a diabetic mother. 61
9018422 1997
195
Sirenomelia: the mermaid syndrome. 61
24057856 1996
196
Sirenomelia: urological abnormalities in a surviving mermaid. 61
12741971 1996
197
[Sirenomelia]. 61
8964545 1996
198
Sirenomelia in an infant of a diabetic mother. A case report. 61
8827914 1996
199
Pathogenesis of caudal dysgenesis/sirenomelia induced by ochratoxin A in chick embryos. 61
8910984 1996
200
Sirenomelia and situs inversus: case report and review of the literature. 61
8719727 1996
201
The teratogenic action of retinoic acid in rat congenic and recombinant inbred strains. 61
8997637 1996
202
[Prenatal diagnosis of three caudal regression syndromes associated with maternal diabetes]. 61
8815138 1996
203
Early second-trimester diagnosis of sirenomelia. 61
7784370 1995
204
[Sirenomelia. Review of nosology and a case report]. 61
7730567 1995
205
A fetus with sirenomelia, omphalocele, and meningomyelocele, but normal kidneys. 61
7801305 1994
206
Caudal regression syndrome: etiopathogenesis, prenatal diagnosis, and perinatal management. 61
7936503 1994
207
Prenatal diagnosis of sirenomelus with color Doppler ultrasonography. 61
8178872 1994
208
Patterns in multimalformed babies and the question of the relationship between sirenomelia and VACTERL. 61
8172248 1994
209
Sirenomelia with spina bifida. 61
7883321 1994
210
Interrelationships of the hemifacial microsomia-VATER, VATER, and sirenomelia phenotypes. 61
8368258 1993
211
Combined pentalogy of Cantrell and sirenomelia: a case report with speculation about a common etiology. 61
8397575 1993
212
Caudal regression versus sirenomelia: sonographic clues. 61
8515529 1993
213
The use of saline solution as a contrast medium in suspected diaphragmatic hernia and renal agenesis. 61
8498432 1993
214
[Imaging diagnosis in the prenatal diagnosis of sirenomelia]. 61
8516479 1993
215
Case reports of malformations associated with maternal diabetes: history and critique. 61
8330451 1993
216
Long term survival of an infant with sirenomelia. 61
8434614 1993
217
Renal dysplasia, megalocystis, and sirenomelia in four siblings. 61
8475459 1993
218
New case of limb body-wall complex associated with sirenomelia sequence. 61
1481813 1992
219
Sirenomelia: case of the surviving mermaid. 61
1403499 1992
220
Craniorachischisis totalis and sirenomelia. 61
1621765 1992
221
Sirenomelia accompanying exposure of the embryo to cocaine. 61
1585209 1992
222
[Sirenomelia: morphological and radiological study of a new case]. 61
1303604 1992
223
The cyclops and the mermaid: an epidemiological study of two types of rare malformation. 61
1552541 1992
224
Sacrococcygeal dysgenesis association. 61
1785625 1991
225
Caudal regression: a review of seven cases, including the mermaid syndrome. 61
1960198 1991
226
Sirenomelia in an identical twin: a case report. 61
1812270 1991
227
Limb body-wall complex in association with sirenomelia sequence. 61
1719813 1991
228
Sirenomelia sequence. 61
1802847 1991
229
[A case of sirenomelia]. 61
1823461 1991
230
Nodular regenerative hyperplasia of fetal liver: a report of two cases. 61
1866366 1991
231
[Developmental abnormalities in humans]. 61
1870596 1991
232
Sirenomelia and anencephaly. 61
1867259 1991
233
From small pelvic outlet syndrome to sirenomelia. 61
2052504 1991
234
Antenatal sonographic diagnosis of sirenomelia. 61
1849924 1991
235
Sirenomelia associated with a "vanishing twin". 61
2014475 1991
236
Spinal cord abnormalities in caudal regression syndrome. 61
2028749 1991
237
[Observations of a case of sirenomelia in a 37-year-old adult]. 61
1759671 1991
238
Familial caudal dysgenesis: evidence for a major dominant gene. 61
2225526 1990
239
[Sirenomelia. Report of 3 cases]. 61
2252299 1990
240
[Prenatal diagnosis of anatomo-pathologic aspects of 2 cases of sirenomelia]. 61
2193251 1990
241
Sirenomelia: prenatal sonographic features. 61
2192701 1990
242
Sirenomelia without Potter syndrome: MR characteristics. 61
2745791 1989
243
[A rare case of sirenomelia. Possibility of prenatal ultrasonic and radiologic diagnosis]. 61
2677644 1989
244
Magnetic resonance imaging as an adjunct to ultrasound in oligohydramnios. Detection of sirenomelia. 61
2657096 1989
245
Prenatal diagnosis of sirenomelia. 61
2651695 1989
246
Sirenomelia--case reports. 61
3252470 1988
247
Antenatal diagnosis of sirenomelia (sympus apus). 61
3142930 1988
248
Pathogenesis of sirenomelia: an editorial comment. 61
3238606 1988
249
Comments on Schwaibold's "Sirenomelia and Anencephaly in One of Dizygotic Twins". 61
3238609 1988
250
Sirenomelia: mermaid syndrome. 61
3351972 1988
251
Sirenomelia: a case report. 61
3435278 1987
252
Sirenomelia in a twelve weeks abortus. 61
3622350 1987
253
Isolation of the right subclavian artery with subclavian steal in a child with Klippel-Feil anomaly: an example of the subclavian artery supply disruption sequence. 61
3591838 1987
254
Sirenomelia. A morphological study of 33 cases and review of the literature. 61
3588246 1987
255
Sirenomelia and anencephaly in one of dizygotic twins. 61
3798361 1986
256
Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues. 61
3748679 1986
257
A case of sirenomelia. In one of a pair of identical twins, and in association with exomphalos. 61
3564169 1986
258
[Report of a case of sirenomelia]. 61
3615021 1986
259
Sirenomelia: analysis in the cadmium- and lead-treated golden hamster. 61
2878508 1986
260
Etiological heterogeneity in sirenomelia. 61
3725705 1986
261
Combined sirenomelus and upper limb amelia in a uniovular twin. 61
4086832 1985
262
Sirenomelia--a case report. 61
4038173 1985
263
A pedigree study of perinatally lethal renal disease. 61
3886908 1985
264
[Sirenomelia--a leading symptom of the PCS complex]. 61
3999550 1985
265
A case of partial sirenomelia and possible vitamin A teratogenesis. 61
3156316 1985
266
Diffuse, multicentric neurogenic tumors in two macerated fetuses: a possible intrauterine form of neurofibromatosis. 61
3938013 1985
267
Sirenomelia ('mermaid'). 61
6500152 1984
268
[Sirenomelia--sympus dipus]. 61
6730035 1984
269
Sirenomelia with multiple congenital anomalies. 61
6469300 1984
270
[Sirenomelia: caudal regression syndrome]. 61
6717236 1984
271
Effect of exposure of pregnant rats to cadmium on prenatal and postnatal development of the young. 61
6544320 1984
272
[Sirenomelia and multicystic renal dysplasia. Apropos of 2 cases]. 61
6674416 1983
273
Monozygotic twinning and sirenomelia. 61
6684640 1983
274
[Sirenomelia in a dead fetus in utero, discovered by a rise in maternal serum alpha-fetoprotein]. 61
6196258 1983
275
Craniofacial, caudal, and visceral anomalies associated with mutant sirenomelic mice. 61
6891838 1982
276
[Ectrouria. Apropos of a case]. 61
7165466 1982
277
Sirenomelia. Angiographic demonstration of vascular anomalies. 61
6896449 1982
278
[Sirenomelia--the caudal regression syndrome (author's transl)]. 61
7050679 1982
279
Sirenomelia with exomphalos major. 61
7130732 1982
280
Sirenomelia, Potter's syndrome and their relationship to monozygotic twinning: a case report and discussion. 61
7108866 1982
281
[Caudal regression with sirenomelia and dysplasia renofacialis (Potter's syndrome) (author's transl)]. 61
6212508 1982
282
[Sirenomelia in one of the twins]. 61
6891894 1982
283
An unusual case of exomphalos with sirenomelia, imperforated anus and other multiple malformations, detected by means of real-time ultrasonography in a twin pregnancy with another sympodic papyraceus fetus. 61
7172436 1982
284
[The value of radiological and ultrasound examination in the prenatal diagnosis of the siren syndrome (author's transl)]. 61
6456200 1980
285
[Problem of sirenomelia]. 61
7377993 1980
286
Monozygotic twinning and structural defects. 61
501497 1979
287
Sirenomelia with exomphalos associated with absent hind gut. 61
541062 1979
288
[Sirenomelia. Contribution of 2 cases]. 61
451311 1979
289
A short case report of sirenomelia associated with the potter's syndrome. 61
751943 1978
290
Sirenomelia (sympodia or mermaid deformity): a case report. 61
897906 1977
291
[Case of sirenomelia]. 61
560761 1977
292
[A case of sirenomelia associated with Potter's syndrome]. 61
612388 1977
293
[A casuistic contribution to potter syndrome of dysplasia renofacialis with and without sirenomelia (author's transl)]. 61
945426 1976
294
Monozygotic twinning and the Duhamel anomalad (imperforate anus to sirenomelia): a nonrandom association between two aberrations in morphogenesis. 61
986201 1976
295
[The problem of sirenoid malformation]. 61
1007701 1976
296
[Sirenomelia syndrome]. 61
1221298 1975
297
Letter: Sirenomelia with exomphalos. 61
1184166 1975
298
Sympus monopus accompanied by nephroblastoma--A case report. 61
168726 1975
299
Sirenomelia. Report of a case with thoughts on the teratogenetic mechanism. 61
4834802 1974
300
Caudal mesoderm pattern of anomalies: from renal agenesis to sirenomelia. 61
4812361 1974
301
[Potter-syndrome and sirenomelia (author's transl)]. 61
4410459 1974
302
Sirenomelia. 61
4520359 1973
303
[Sirenomelia]. 61
4772550 1973
304
Developmental aspects of sirenomelia in the mouse. 61
4753445 1973
305
Picture of the month. Sirenomelia. 61
4783662 1973
306
An unusual case of sirenomelia. 61
4643613 1972
307
Triplets pregnancy with a normal foetus and a dicephalus dibrachius sirenomelus. 61
5049375 1972
308
Sirenomelia. A spectrum of related syndromes. 61
5552382 1971
309
[Agenesis of the urogenital sinus in a malformed fetus (sirenomelus)]. 61
5508772 1970
310
Sirenomelia. Chromosomal breaks and abnormal associations in cultures from the fused lower limb. 61
5426273 1970
311
[Sirenomelus]. 61
5311907 1970
312
[A complete sirenomelus]. 61
5381959 1969
313
[The human "Sirenomelus". A contribution from the clinical and radiographic viewpoint]. 61
5803952 1969
314
[Case of sirenomelus (anatomical and morphogenetic considerations)]. 61
5758159 1968
315
[A case of sirenomelus]. 61
6044443 1967
316
SPECIMEN OF SIRENOMELUS. REPORT OF A CASE. 61
14270602 1965
317
SIRENOMELIA MONSTER: SYMPUS APUS. (REVIEW OF LITERATURE AND REPORT OF A CASE). 61
14247633 1964
318
[CHROMOSOMAL STUDIES IN CASE OF SIRENOMELUS]. 61
14175935 1964
319
A case of sirenomelia (mermaid). 61
13983878 1963
320
[On the problem of an acardiac sirenomelus monster]. 61
13871492 1961
321
The association of sirenomelia with Potter's syndrome. 61
13688247 1960
322
Sirenomelia and monomelia with renal agenesis and amnion nodosum. 61
13795887 1960
323
Sirenomelia: sympus dipus (mermaid). 61
13545873 1958
324
[Genealogical study of sirenomelus malformations]. 61
13594078 1958
325
[Two cases of sirenomelus]. 61
13606460 1958
326
Sirenomelia (merimaid). 61
13385735 1956
327
[Anencephalus sirenomelus monopus, a very rare combination of congenital deformities]. 61
13348723 1956
328
[Sirenomelus]. 61
13309551 1955
329
[On monopodal sirenomelus]. 61
13103662 1953
330
[Brief description of a case of sirenomelus]. 61
13043680 1952
331
[Sirenomelus]. 61
14863732 1951

Variations for Sirenomelia

ClinVar genetic disease variations for Sirenomelia:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDX2 NM_001265.6(CDX2):c.940T>C (p.Ter314Arg)SNV Likely pathogenic 812557 13:28537254-28537254 13:27963117-27963117

Expression for Sirenomelia

Search GEO for disease gene expression data for Sirenomelia.

Pathways for Sirenomelia

GO Terms for Sirenomelia

Sources for Sirenomelia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....