Aliases & Classifications for Sirenomelia

MalaCards integrated aliases for Sirenomelia:

Name: Sirenomelia 54 30 74
Mermaid Malformation 54
Sirenomelia Sequence 54
Fused Legs and Feet 54
Mermaid Syndrome 54
Sirenomelus 54

Classifications:



Summaries for Sirenomelia

NIH Rare Diseases : 54 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 sacral defect with anterior meningocele and selig benacerraf greene syndrome. The drugs Pantoprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and brain, and related phenotypes are renal hypoplasia/aplasia and anal atresia

Wikipedia : 77 Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused... more...

Related Diseases for Sirenomelia

Graphical network of the top 20 diseases related to Sirenomelia:



Diseases related to Sirenomelia

Symptoms & Phenotypes for Sirenomelia

Human phenotypes related to Sirenomelia:

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

Drugs & Therapeutics for Sirenomelia

Drugs for Sirenomelia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pantoprazole Approved Phase 4 102625-70-7 4679
2 Antacids Phase 4
3 Anti-Ulcer Agents Phase 4
4 Gastrointestinal Agents Phase 4
5 Proton Pump Inhibitors Phase 4
6
Nicotine Approved Phase 1, Phase 2 54-11-5 89594 942
7 Autonomic Agents Phase 1, Phase 2
8 Nicotinic Agonists Phase 1, Phase 2
9 Peripheral Nervous System Agents Phase 1, Phase 2
10 Central Nervous System Stimulants Phase 1, Phase 2
11 Cholinergic Agents Phase 1, Phase 2
12 Neurotransmitter Agents Phase 1, Phase 2
13 HIV Protease Inhibitors Not Applicable
14 4-des-dimethylaminotetracycline Not Applicable
15 Matrix Metalloproteinase Inhibitors Not Applicable
16
protease inhibitors Not Applicable
17 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Sup-Icu RENal (SIREN) Completed NCT02718261 Phase 4 Pantoprazole;Saline 0.9% (matching placebo)
2 Hyperbaric Oxygen Brain Injury Treatment Trial Recruiting NCT02407028 Phase 2 Hyperbaric oxygen (1.5 ATA, no NBH);Hyperbaric oxygen (2.0 ATA, no NBH);Hyperbaric oxygen (2.5 ATA, no NBH);Hyperbaric oxygen (1.5 ATA + NBH);Hyperbaric oxygen (2.0 ATA + NBH);Hyperbaric oxygen (2.5 ATA + NBH);Normobaric Hyperoxia (NBH)
3 Impact of Nicotine Reduction on Adolescent Cigarette Use, Alternative Tobacco Use, and Harm From Tobacco Not yet recruiting NCT03860077 Phase 1, Phase 2 Very Low Nicotine Content Cigarettes;Normal Nicotine Content Cigarettes
4 Driving Ability in Patients With CMT 1A Completed NCT02357355 Not Applicable
5 Emergency Medical Technician Treat-and-leave Patients Receiving Telemedicine Consultation With Emergency Medical Dispatch Physician - a Controlled Before and After Pilot-study Completed NCT02228317 Not Applicable
6 Basic Life Support Termination of Resuscitation Implementation Study Completed NCT00370461
7 New-onset Diabetes and Left Ventricular Hypertrophy in Renal Transplantation Completed NCT01976689
8 Social Inequalities in Emergency Call and Emergency Response Patterns Completed NCT02649036
9 The NeoBeat Efficacy Study for Newborns Recruiting NCT03849781 Not Applicable
10 Immediate Parent -Infant Skin-to-Skin Study (IPISTOSS) Recruiting NCT03521310 Not Applicable
11 Comparison Of Respiratory Support After Delivery on Infants Born Before 28 Weeks Gestational Age Recruiting NCT02563717 Not Applicable

Search NIH Clinical Center for Sirenomelia

Genetic Tests for Sirenomelia

Genetic tests related to Sirenomelia:

# Genetic test Affiliating Genes
1 Sirenomelia 30

Anatomical Context for Sirenomelia

MalaCards organs/tissues related to Sirenomelia:

42
Kidney, Skin, Brain, Spinal Cord, Heart

Publications for Sirenomelia

Articles related to Sirenomelia:

(show top 50) (show all 204)
# Title Authors Year
1
A Case of Sirenomelia: A Mermaid Baby. ( 30956482 )
2019
2
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis. ( 30622827 )
2018
3
Sirenomelia with VACTERL association-a rare anomaly. ( 29031871 )
2018
4
Fetal Sirenomelia Associated with an Abdominal Cyst Originating from a Saccular Cloaca. ( 29707395 )
2018
5
A Case of Sirenomelia Associated with Hypoplastic Left Heart with a Healthy Co-Twin: A Rare Entity. ( 30079256 )
2018
6
Sirenomelia in twin pregnancy: A case report and literature review. ( 30572488 )
2018
7
Sirenomelia: A Case Report. ( 31065147 )
2018
8
Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study. ( 29390297 )
2017
9
Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies. ( 28509418 )
2017
10
Prenatal diagnosis of sirenomelia in the second trimester of pregnancy using two-dimensional ultrasound, three-dimensional ultrasound and magnetic resonance imaging. ( 28670035 )
2017
11
Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report. ( 28693936 )
2017
12
Sirenomelia associated with Hypoplastic Left Heart in a Newborn. ( 28924546 )
2017
13
Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. ( 25845272 )
2016
14
Sirenomelia: Expansion of the Phenotype. ( 26515295 )
2016
15
Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis. ( 27062024 )
2016
16
Exposure to methylergonovine maleate as a cause of sirenomelia. ( 27086509 )
2016
17
Fetal MR Imaging Analysis of Sirenomelia with Clinico Radiographic Correlation: A Case Report. ( 27504380 )
2016
18
Prenatal diagnosis of sirenomelia in the first trimester: A case report. ( 28913090 )
2016
19
Sirenomelia: two cases in Cali, Colombia. ( 25636631 )
2015
20
Sirenomelia: The mermaid syndrome: Report of two cases. ( 25810681 )
2015
21
Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital. ( 25976191 )
2015
22
Sirenomelia or mermaid syndrome. ( 26112858 )
2015
23
Sirenomelia with upper limb malformation: a case report and review of the literature. ( 26411229 )
2015
24
FOUR CASES OF SIRENOMELIA WITH DIFFERENT MANIFESTATION. ( 26625671 )
2015
25
Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound. ( 26670448 )
2015
26
Diagnosis of sirenomelia in the first trimester. ( 24281983 )
2014
27
Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases. ( 24656289 )
2014
28
Sirenomelia with oesophageal atresia: a rare association. ( 24701519 )
2014
29
Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia. ( 25044506 )
2014
30
A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother. ( 25322991 )
2014
31
Sirenomelia and severe caudal regression syndrome. ( 25551110 )
2014
32
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? ( 22643051 )
2013
33
Severe Sirenomelia following frozen-thawed embryo transfer cycle. ( 22865038 )
2013
34
Short-term surviving sirenomelia neonate followed by a complex mesodermal malformation in a sibling. ( 23365163 )
2013
35
Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. ( 23526679 )
2013
36
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. ( 23625330 )
2013
37
Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy. ( 23776071 )
2013
38
Conjoined legs: Sirenomelia or caudal regression syndrome? ( 23960288 )
2013
39
Three-dimensional sonography of sirenomelia at 10 and 12 weeks' gestation. ( 23980232 )
2013
40
Sirenomelia sequence with other rare congenital anomalies. ( 22415493 )
2012
41
Sirenomelia apus after trimethoprim exposure: first-trimester ultrasound diagnosis-a case report. ( 22467597 )
2012
42
Sirenomelia and caudal malformations in two families. ( 22522670 )
2012
43
Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America). ( 22628363 )
2012
44
Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3). ( 22639997 )
2012
45
Sirenomelia: four further cases with discussion of associated upper limb defects. ( 22660421 )
2012
46
Sirenomelia: case reports and current concepts of pathogenesis. ( 22816558 )
2012
47
Reduced BMP signaling results in hindlimb fusion with lethal pelvic/urogenital organ aplasia: a new mouse model of sirenomelia. ( 23028455 )
2012
48
Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations. ( 23028704 )
2012
49
Sirenomelia apus: a rare deformity. ( 24027712 )
2012
50
Sirenomelia: a rare case of foetal congenital anomaly. ( 24027732 )
2012

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

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75 UMLS via Orphanet
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