Sirenomelia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SRN002 MIFTS: 25	Sirenomelia Categories: Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷² C0037205

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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...

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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
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:

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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

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Drugs & Therapeutics for Sirenomelia

Search Clinical Trials , NIH Clinical Center for Sirenomelia

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Genetic Tests for Sirenomelia

Genetic tests related to Sirenomelia:

#	Genetic test	Affiliating Genes
1	Sirenomelia ²⁹

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Anatomical Context for Sirenomelia

MalaCards organs/tissues related to Sirenomelia:

⁴¹

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

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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	Kavunga EK...Masumbuko CK	31300067	2019
2	Sirenomelia and maternal chlamydia trachomatis infection: a case report and review. ³⁸	Fuchs G...Verma RP	31213098	2019
3	A Case of Sirenomelia: A Mermaid Baby. ³⁸	Khalatkar P...Khalatkar A	30956482	2019
4	Sirenomelia in twin pregnancy: A case report and literature review. ³⁸	Xu T...Yu H	30572488	2018
5	Sirenomelia: A Case Report. ³⁸	Kattel P	31065147	2018
6	Mermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity. ³⁸	Taee N...Bajelan A	30443435	2018
7	Sirenomelia with VACTERL association-a rare anomaly. ³⁸	Tanigasalam V...Vishnu Bhat B	29031871	2018
8	History and highlights of the teratological collection in the Museum Anatomicum of Leiden University, The Netherlands. ³⁸	Boer LL...Oostra RJ	29399953	2018
9	Mermaid Syndrome: A Case Report in Mauritius. ³⁸	Ramphul K...Ramphul-Sicharam Y	29686952	2018
10	Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis. ³⁸	Sugiura T...Tsukimori K	30622827	2018
11	Fetal Sirenomelia Associated with an Abdominal Cyst Originating from a Saccular Cloaca. ³⁸	Kinjo Y...Aoki Y	29707395	2018
12	A Case of Sirenomelia Associated with Hypoplastic Left Heart with a Healthy Co-Twin: A Rare Entity. ³⁸	Al Yaqoubi HN...Al Shafouri NST	30079256	2018
13	Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study. ³⁸	Theofanakis C...Daskalakis G	29390297	2017
14	Sirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report. ³⁸	Islam N...Chatterjee U	28693936	2017
15	Sirenomelia associated with Hypoplastic Left Heart in a Newborn. ³⁸	Turgut H...Karadag A	28924546	2017
16	Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies. ³⁸	Boer LL...Oostra RJ	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	Werner H...Araujo Junior E	28670035	2017
18	Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report. ³⁸	Al Hadhoud F...Diejomaoh MF	29033614	2017
19	Sirenomelia: Expansion of the Phenotype. ³⁸	Tripathy PR...Divia PA	26515295	2016
20	Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis. ³⁸	Groisman B...RENAC Task Force	27062024	2016
21	Exposure to methylergonovine maleate as a cause of sirenomelia. ³⁸	Cozzolino M...Tommaso MD	27086509	2016
22	Fetal MR Imaging Analysis of Sirenomelia with Clinico Radiographic Correlation: A Case Report. ³⁸	Nori M...Cheguri SR	27504380	2016
23	Prenatal diagnosis of sirenomelia in the first trimester: A case report. ³⁸	Ceylan Y...Yucesoy G	28913090	2016
24	Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. ³⁸	Isik Kaygusuz E...Cetiner H	25845272	2016
25	Routine screening for fetal limb abnormalities in the first trimester. ³⁸	Liao YM...Tian XX	26573084	2016
26	Dermatoglyphics in kidney diseases: a review. ³⁸	Wijerathne BT...Agampodi SB	27066327	2016
27	Prenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound. ³⁸	Liu R...Ma HJ	26670448	2015
28	Congenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS). ³⁸	Bedard T...Metcalfe A	26171959	2015
29	Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature. ³⁸	Sharma S...Singla DA	26266174	2015
30	Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital. ³⁸	Nokeaingtong K...Khuwuthyakorn V	25976191	2015
31	Sirenomelia or mermaid syndrome. ³⁸	Saxena R...Puri A	26112858	2015
32	Sirenomelia with upper limb malformation: a case report and review of the literature. ³⁸	Su D...Yao Q	26411229	2015
33	Sirenomelia: The mermaid syndrome: Report of two cases. ³⁸	Samal SK...Rathod S	25810681	2015
34	Sirenomelia: two cases in Cali, Colombia. ³⁸	Saldarriaga W...Ramirez-Cheyne J	25636631	2015
35	FOUR CASES OF SIRENOMELIA WITH DIFFERENT MANIFESTATION. ³⁸	Erdogdu E...Pekin O	26625671	2015
36	Sirenomelia and severe caudal regression syndrome. ³⁸	Seidahmed MZ...Salih MA	25551110	2014
37	Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT). ³⁸	Rodriguez MM	25313840	2014
38	Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia. ³⁸	Saldarriaga W...Castilla EE	25044506	2014
39	Sirenomelia with associated systemic anomalies: an autopsy pathologic illustration of a series of four cases. ³⁸	Chikkannaiah P...Shankar SK	24656289	2014
40	Diagnosis of sirenomelia in the first trimester. ³⁸	Singh C...Kaul A	24281983	2014
41	Sirenomelia with oesophageal atresia: a rare association. ³⁸	Sathe PA...Kandalkar BM	24701519	2014
42	A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother. ³⁸	Ozturk MA...Kara A	25322991	2014
43	[Sirenomelia (Mermaid syndrome): description of the first Congolese cases and review of the literature]. ³⁸	Lubala TK...Mutombo AM	25120875	2014
44	Fetal MRI as a complementary technique after prenatal diagnosis of persistent vitelline artery in an otherwise normal fetus. ³⁸	Bravo C...Ortiz-Quintana L	23836580	2013
45	Three-dimensional sonography of sirenomelia at 10 and 12 weeks' gestation. ³⁸	Cuillier F...Bideaut J	23980232	2013
46	Conjoined legs: Sirenomelia or caudal regression syndrome? ³⁸	Das SP...Mohanty RN	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	Tonni G...Gianpaolo G	23625330	2013
48	Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy. ³⁸	Tica OS...Tica VI	23776071	2013
49	A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? ³⁸	Lopez-Valdez JA...Aguinaga-Rios M	22643051	2013
50	Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature. ³⁸	Lhuaire M...Labrousse M	23526679	2013

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Genes for Sirenomelia

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Variations for Sirenomelia

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Expression for Sirenomelia

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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