Sirenomelia

Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth.



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Narrow down the case reports



Total: 93 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
10
(4.0%)		 30956482
 A Case of Sirenomelia: A Mermaid Baby.
Khalatkar P, Khalatkar V, Khalatkar A.
J Obstet Gynaecol India. 2019;69(Suppl 1):10-13.
Single umbilical artery
10
(4.0%)		 30622827
 Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis.
Sugiura T, Sato Y, Nakanami N, Tsukimori K.
Case Rep Obstet Gynecol. 2018;2018:7058253.
Anencephaly
10
(4.0%)		 30572488
 Sirenomelia in twin pregnancy: A case report and literature review.
Xu T, Wang X, Luo H, Yu H.
Medicine (Baltimore). 2018;97(51):e13672.
Single umbilical artery
Adult Diseases in Twins Ectromelia Fatal Outcome Females Fertilization in Vitro Homo sapiens Infant, Newborn Male Oligohydramnios Pregnancy Pregnancy, Twin Ultrasonography, Prenatal
10
(4.0%)		 30443435
(6235678)
 Mermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity.
Taee N, Tarhani F, Goodarzi MF, Safdari M, Bajelan A.
AJP Rep. 2018;8(4):e328-e331.
Ambiguous genitalia
10
(4.0%)		 30079256
(6035819)
 A Case of Sirenomelia Associated with Hypoplastic Left Heart with a Healthy Co-Twin: A Rare Entity.
Al Yaqoubi HN, Al Badi MM, Ambu Saidi FM, Al Shafouri NST.
Case Rep Pediatr. 2018;2018:9361745.
Hypoplastic left heart
10
(4.0%)		 29707395
(5863329)
 Fetal Sirenomelia Associated with an Abdominal Cyst Originating from a Saccular Cloaca.
Kinjo Y, Masamoto H, Nitta H, Kinjo T, Tamaki T, Yoshimi N, Aoki Y.
Case Rep Obstet Gynecol. 2018;2018:7513287.
Absent external genitalia
10
(4.0%)		 29390297
(5815709)
 Prenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study.
Theofanakis C, Theodora M, Sindos M, Daskalakis G.
Medicine (Baltimore). 2017;96(50):e9020.
Oligohydramnios
Abortion, Eugenic Anencephaly Ectromelia Females Homo sapiens Neural Tube Defects Pregnancy Ultrasonography, Prenatal Young Adult
10
(4.0%)		 29033614
(5614763)
 Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report.
Al Hadhoud F, Kamal AH, Al Anjari A, Diejomaoh MF.
Int Med Case Rep J. 2017;10:313-317.
Ambiguous genitalia
10
(4.0%)		 28913090
(5558357)
 Prenatal diagnosis of sirenomelia in the first trimester: A case report.
Ceylan Y, Dogan Y, Ozkan Ozdemir S, Yucesoy G.
Turk J Obstet Gynecol. 2016;13(1):50-52.
Oligohydramnios
10
(4.0%)		 26266174
 Sacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature.
Sharma S, Sharma V, Awasthi B, Sehgal M, Singla DA.
J Clin Diagn Res. 2015;9(6):RD08-9.
Neurogenic bladder
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0000062 Ambiguous genitalia Very frequent (99-80%)
HP:0000079 Abnormality of the urinary system Very frequent (99-80%)
HP:0002023 Anal atresia Very frequent (99-80%)
HP:0008678 Renal hypoplasia/aplasia Very frequent (99-80%)
HP:0010305 Absence of the sacrum Very frequent (99-80%)
HP:0010497 Sirenomelia Very frequent (99-80%)
HP:0001626 Abnormality of the cardiovascular system Frequent (79-30%)
HP:0002414 Spina bifida Frequent (79-30%)
HP:0002575 Tracheoesophageal fistula Frequent (79-30%)
HP:0006501 Aplasia/Hypoplasia of the radius Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 23

HPO ID Term # of case reports
HP:0001562 Oligohydramnios 16
HP:0001195 Single umbilical artery 15
HP:0002323 Anencephaly 6
HP:0000819 Diabetes mellitus 5
HP:0009800 Maternal diabetes 4
HP:0000042 Absent external genitalia 3
HP:0002023 Anal atresia 3
HP:0000062 Ambiguous genitalia 1
HP:0000077 Abnormality of the kidney 1
HP:0000126 Hydronephrosis 1
HP:0000238 Hydrocephalus 1
HP:0000789 Infertility 1
HP:0001155 Abnormality of the hand 1
HP:0001274 Agenesis of corpus callosum 1
HP:0001511 Intrauterine growth retardation 1
HP:0001788 Premature rupture of membranes 1
HP:0002089 Pulmonary hypoplasia 1
HP:0002414 Spina bifida 1
HP:0002575 Tracheoesophageal fistula 1
HP:0004383 Hypoplastic left heart 1
HP:0010442 Polydactyly 1
HP:0012621 Persistent cloaca 1
HP:0012732 Anorectal anomaly 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID