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Sirenomelia

Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Sirenomelia

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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:

MalaCards categories:
Global: Rare diseases
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External Ids:

UMLS 71 C0037205
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Summaries for Sirenomelia

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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...

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Related Diseases for Sirenomelia

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

(show top 50) (show all 71)
# 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

Graphical network of the top 20 diseases related to Sirenomelia:



Diseases related to Sirenomelia
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Symptoms & Phenotypes for Sirenomelia

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Human phenotypes related to Sirenomelia:

31 (show all 9)
# 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
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Drugs & Therapeutics for Sirenomelia

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Search Clinical Trials , NIH Clinical Center for Sirenomelia

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Genetic Tests for Sirenomelia

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Genetic tests related to Sirenomelia:

# Genetic test Affiliating Genes
1 Sirenomelia 29
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Anatomical Context for Sirenomelia

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MalaCards organs/tissues related to Sirenomelia:

40
Kidney, Heart, Bone, Spinal Cord, Colon, Liver, Fetal Liver
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Publications for Sirenomelia

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Articles related to Sirenomelia:

(show top 50) (show all 331)
# 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
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Variations for Sirenomelia

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ClinVar genetic disease variations for Sirenomelia:

6 ‎‎
# 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
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Expression for Sirenomelia

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Search GEO for disease gene expression data for Sirenomelia.
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Pathways for Sirenomelia

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GO Terms for Sirenomelia

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Sources for Sirenomelia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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