Aliases & Classifications for Sirenomelia

MalaCards integrated aliases for Sirenomelia:

Name: Sirenomelia 53 29 72
Mermaid Malformation 53
Sirenomelia Sequence 53
Fused Legs and Feet 53
Mermaid Syndrome 53
Sirenomelus 53

Classifications:



External Ids:

UMLS 72 C0037205

Summaries for Sirenomelia

NIH Rare Diseases : 53 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. Affiliated tissues include kidney, heart and colon, and related phenotypes are renal hypoplasia/aplasia and anal atresia

Wikipedia : 75 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:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 caudal regression-sirenomelia spectrum 12.3
2 sacral defect with anterior meningocele 11.8
3 selig benacerraf greene syndrome 11.6
4 renal hypodysplasia/aplasia 1 10.7
5 oligohydramnios 10.7
6 anus, imperforate 10.5
7 vacterl association 10.5
8 potter's syndrome 10.4
9 neural tube defects 10.4
10 anencephaly 10.4
11 renal dysplasia 10.4
12 esophageal atresia 10.3
13 vater/vacterl association 10.3
14 holoprosencephaly 10.3
15 tracheoesophageal fistula with or without esophageal atresia 10.2
16 craniorachischisis 10.2
17 hemifacial microsomia 10.2
18 omphalocele 10.2
19 situs inversus 10.2
20 lipomyelomeningocele 10.1
21 cloacal exstrophy 10.1
22 cleft palate, isolated 10.1
23 vacterl association with hydrocephalus 10.1
24 scoliosis 10.1
25 myelomeningocele 10.1
26 renal hypoplasia 10.1
27 intestinal atresia 10.1
28 cleft lip 10.1
29 47,xyy 10.1
30 axial mesodermal dysplasia spectrum 10.1
31 limb-body wall complex 10.1
32 tracheoesophageal fistula 10.1
33 cleft lip/palate 10.1
34 alobar holoprosencephaly 10.1
35 thumb deformity 10.0
36 polydactyly, postaxial, type a1 9.9
37 duodenal atresia 9.9
38 hydrocephalus, congenital, 1 9.9
39 neuroblastoma 1 9.9
40 exstrophy of bladder 9.9
41 retinitis pigmentosa 11 9.9
42 polydactyly 9.9
43 cyanosis, transient neonatal 9.9
44 leptin deficiency or dysfunction 9.9
45 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
46 hypogonadotropic hypogonadism 9.9
47 microphthalmia 9.9
48 hydrocephalus 9.9
49 hydronephrosis 9.9
50 respiratory failure 9.9

Graphical network of the top 20 diseases related to Sirenomelia:



Diseases related to Sirenomelia

Symptoms & Phenotypes for Sirenomelia

Human phenotypes related to Sirenomelia:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 renal hypoplasia/aplasia 32 hallmark (90%) HP:0008678
2 anal atresia 32 hallmark (90%) HP:0002023
3 ambiguous genitalia 32 hallmark (90%) HP:0000062
4 sirenomelia 32 hallmark (90%) HP:0010497
5 absence of the sacrum 32 hallmark (90%) HP:0010305
6 abnormality of the cardiovascular system 32 frequent (33%) HP:0001626
7 tracheoesophageal fistula 32 frequent (33%) HP:0002575
8 spina bifida 32 frequent (33%) HP:0002414
9 aplasia/hypoplasia of the radius 32 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:

41
Kidney, Heart, Colon, Liver, Bone, Spinal Cord, Fetal Liver

Publications for Sirenomelia

Articles related to Sirenomelia:

(show top 50) (show all 323)
# Title Authors PMID Year
1
Sirenomelia associated with an anterior abdominal wall defect: a case report. 38
31300067 2019
2
Sirenomelia and maternal chlamydia trachomatis infection: a case report and review. 38
31213098 2019
3
A Case of Sirenomelia: A Mermaid Baby. 38
30956482 2019
4
Sirenomelia in twin pregnancy: A case report and literature review. 38
30572488 2018
5
Sirenomelia: A Case Report. 38
31065147 2018
6
Mermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity. 38
30443435 2018
7
Sirenomelia with VACTERL association-a rare anomaly. 38
29031871 2018
8
History and highlights of the teratological collection in the Museum Anatomicum of Leiden University, The Netherlands. 38
29399953 2018
9
Mermaid Syndrome: A Case Report in Mauritius. 38
29686952 2018
10
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis. 38
30622827 2018
11
Fetal Sirenomelia Associated with an Abdominal Cyst Originating from a Saccular Cloaca. 38
29707395 2018
12
A Case of Sirenomelia Associated with Hypoplastic Left Heart with a Healthy Co-Twin: A Rare Entity. 38
30079256 2018
13
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study. 38
29390297 2017
14
Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report. 38
28693936 2017
15
Sirenomelia associated with Hypoplastic Left Heart in a Newborn. 38
28924546 2017
16
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies. 38
28509418 2017
17
Prenatal diagnosis of sirenomelia in the second trimester of pregnancy using two-dimensional ultrasound, three-dimensional ultrasound and magnetic resonance imaging. 38
28670035 2017
18
Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report. 38
29033614 2017
19
Sirenomelia: Expansion of the Phenotype. 38
26515295 2016
20
Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis. 38
27062024 2016
21
Exposure to methylergonovine maleate as a cause of sirenomelia. 38
27086509 2016
22
Fetal MR Imaging Analysis of Sirenomelia with Clinico Radiographic Correlation: A Case Report. 38
27504380 2016
23
Prenatal diagnosis of sirenomelia in the first trimester: A case report. 38
28913090 2016
24
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. 38
25845272 2016
25
Routine screening for fetal limb abnormalities in the first trimester. 38
26573084 2016
26
Dermatoglyphics in kidney diseases: a review. 38
27066327 2016
27
Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound. 38
26670448 2015
28
Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS). 38
26171959 2015
29
Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature. 38
26266174 2015
30
Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital. 38
25976191 2015
31
Sirenomelia or mermaid syndrome. 38
26112858 2015
32
Sirenomelia with upper limb malformation: a case report and review of the literature. 38
26411229 2015
33
Sirenomelia: The mermaid syndrome: Report of two cases. 38
25810681 2015
34
Sirenomelia: two cases in Cali, Colombia. 38
25636631 2015
35
FOUR CASES OF SIRENOMELIA WITH DIFFERENT MANIFESTATION. 38
26625671 2015
36
Sirenomelia and severe caudal regression syndrome. 38
25551110 2014
37
Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT). 38
25313840 2014
38
Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia. 38
25044506 2014
39
Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases. 38
24656289 2014
40
Diagnosis of sirenomelia in the first trimester. 38
24281983 2014
41
Sirenomelia with oesophageal atresia: a rare association. 38
24701519 2014
42
A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother. 38
25322991 2014
43
[Sirenomelia (Mermaid syndrome): description of the first Congolese cases and review of the literature]. 38
25120875 2014
44
Fetal MRI as a complementary technique after prenatal diagnosis of persistent vitelline artery in an otherwise normal fetus. 38
23836580 2013
45
Three-dimensional sonography of sirenomelia at 10 and 12 weeks' gestation. 38
23980232 2013
46
Conjoined legs: Sirenomelia or caudal regression syndrome? 38
23960288 2013
47
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. 38
23625330 2013
48
Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy. 38
23776071 2013
49
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? 38
22643051 2013
50
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. 38
23526679 2013

Variations for Sirenomelia

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
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19 FMA
28 GO
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30 HGMD
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49 NCI
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51 NDF-RT
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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