Sirenomelia é um defeito genético raro de desenvolvimento durante o distúrbio da embriogênese, caracterizado pela fusão dos membros inferiores e associado a algum grau de redução dos membros inferiores e artéria vitelina persistente. Os pacientes também apresentam malformações graves do sistema músculo-esquelético (por exemplo, agenesia sacral), bem como dos tratos urogenital e gastrointestinal inferior (por exemplo, agenesia renal, bexiga ausente, atresia retal/anal e ausência de genitália interna). A maioria dos casos nasce morta ou morre durante ou logo após o nascimento.
Introdução
O que você precisa saber de cara
A sirenomelia, popularmente chamada de síndrome da sereia, é uma malformação congênita muito rara em que ocorre a fusão das pernas durante a formação do bebê. Além da união dos membros inferiores, a condição causa problemas graves nos rins, no sistema urinário e no intestino, como a ausência de rins e o fechamento do canal anal. Por causa da gravidade dessas alterações nos órgãos internos, a grande maioria dos bebês não sobrevive durante a gestação ou logo após o nascimento. A condição não tem protocolo clínico (PCDT) próprio publicado pelo Ministério da Saúde e não possui remédios específicos, sendo o cuidado focado no suporte hospitalar.
Sirenomelia é um defeito genético raro de desenvolvimento durante o distúrbio da embriogênese, caracterizado pela fusão dos membros inferiores e associado a algum grau de redução dos membros inferiores e artéria vitelina persistente. Os pacientes também apresentam malformações graves do sistema músculo-esquelético (por exemplo, agenesia sacral), bem como dos tratos urogenital e gastrointestinal inferior (por exemplo, agenesia renal, bexiga ausente, atresia retal/anal e ausência de genitália interna). A maioria dos casos nasce morta ou morre durante ou logo após o nascimento.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
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Características mais comuns
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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🇧🇷 Atendimento SUS — Sirenomelia
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Publicações mais relevantes
Prenatal Ultrasound Diagnosis of Sirenomelia Sequence in First Trimester: A Case Report.
This case report describes a prenatal diagnosis of sirenomelia sequence at 12 weeks and 4 days of gestation using two-dimensional (2D) and three-dimensional (3D) ultrasound. The case highlights the importance of First Trimester ultrasound screening and the value of 3D ultrasound in early diagnosis. The etiology of this condition is discussed, with a focus on its potential association with embryonic layer development abnormalities. Ultimately, the patient opted for termination of pregnancy. This report provides valuable clinical experience in the early ultrasound diagnosis of sirenomelia sequence and discusses the importance of its ultrasound manifestations and clinical management.
A study on the diagnostic value and classification of sirenomelia by prenatal ultrasonography.
To investigate the prenatal ultrasonographic features of sirenomelia and perform classification, aiming to improve diagnostic accuracy during the early and mid-trimester. Clinical data of pregnant women with a prenatal diagnosis of sirenomelia were retrospectively analyzed. The ultrasonographic characteristics were described, and cases were classified into three groups according to Stocker's classification: bipedal sympodia group (Group A, including types I, II, III), monopedal sympodia group (Group B, including types IV, V), and apodal sympodia group (Group C, including types VI, VII). Based on the origin of the umbilical artery and the position of the umbilical vein, single umbilical artery (SUA) was categorized as Type I or Type II. The correlation between relevant vascular parameters and the severity of lower limb malformations was analyzed across different SUA types and groups. Pregnancy outcomes and related imaging findings were followed up, and the consistency between post-termination fetal appearance and prenatal diagnosis was compared. The incidence of sirenomelia in our institution was approximately 0.37 per 1,000 (20/54,196). The primary prenatal ultrasonographic features in the 20 cases included sympodia (fusion of the lower limbs), single umbilical artery, and foot deformities. Major associated anomalies were oligohydramnios (12 cases), bilateral renal agenesis (20 cases), non-visualization of the bladder (14 cases), and a slender abdominal aorta with its branches (15 cases). The classification of sympodia was as follows: Type I (3 cases), Type II (2 cases), Type III (4 cases), Type IV (2 cases), Type V (2 cases), Type VI (5 cases), and Type VII (2 cases). Type I SUA included 3 cases from Group A and 2 from Group B. Type II SUA included 6 cases from Group A, 2 from Group B, and 7 from Group C. In Type I SUA, there were no statistically significant differences in the mean internal diameter at the origin of the umbilical artery (t = 4.420, P = 0.126) or the mean internal diameter of the distal abdominal aorta (t = -1.777, P = 0.076) between Groups A and B. In Type II SUA, no statistically significant difference was found among the three groups regarding the mean internal diameter at the origin of the umbilical artery (F = 0.679, P = 0.525). However, a statistically significant difference was observed in the mean internal diameter of the distal abdominal aorta among the three groups (F = 9.865, P = 0.007). Bivariate Pearson correlation analysis revealed that the mean internal diameter of the distal abdominal aorta was negatively correlated with the severity of lower limb malformations in both Type I (r = -0.889, P = 0.044) and Type II SUA (r = -0.818, P < 0.001). Post-termination examination of all 20 fetuses showed fusion from the hips downward, with absence of the gluteal cleft, external genitalia, anus, and urethra. The postnatal external findings were consistent with the prenatal ultrasonographic diagnoses. Prenatal ultrasonography enables accurate diagnosis and classification of sirenomelia. In Type II single umbilical artery (SUA), differences were observed in the mean internal diameter of the distal abdominal aorta among the three groups. Furthermore, in both Type I and Type II SUA, the mean internal diameter of the distal abdominal aorta was negatively correlated with the severity of lower limb malformations. As a rare and lethal malformation involving multiple systems, the pregnancy outcome after diagnosis is typically termination.
Monochorionic twin pregnancy complicated by sirenomelia: A rare clinical encounter.
Sirenomelia With Complete Caudal Regression in a Preterm Infant Born to a Mother With Poorly Controlled Type 1 Diabetes Mellitus: A Case Report on Clinical Presentation and Perinatal Management Challenges.
Sirenomelia is a rare, lethal congenital anomaly characterized by caudal regression and lower limb fusion. The etiopathogenesis is multifactorial, with maternal glycemic dysregulation established as a significant risk factor, contributing to the development of this severe malformation syndrome. We report an infant born at 33 weeks' gestation with a birth weight of 1,900 g to a 36-year-old multiparous woman with poorly controlled type 1 diabetes mellitus (HbA1c, 9.8%). Prenatal ultrasound evaluation during the second trimester identified significant fetal abnormalities consistent with a lethal congenital malformation syndrome. The neonate presented with complete lower limb fusion, bilateral renal agenesis, imperforate anus, ambiguous genitalia, and dysmorphic facial features. Despite supportive palliative care, the infant died at 24 hours of life due to complications of bilateral renal agenesis and associated malformations. This case emphasizes the critical importance of optimal preconception glycemic control in diabetic women and highlights the challenges in prenatal counseling and neonatal management of sirenomelia. The case contributes to the growing evidence linking poor maternal glycemic control with severe caudal regression anomalies and underscores the need for enhanced periconceptional counseling.
A new type of sirenomelia with dysplastic upper limb and cystic hygroma diagnosed in early pregnancy through 2D and 3D ultrasonography: case report.
To report a new type of sirenomelia in early pregnancy, which was different from the reported types. A 33-year-old Chinese pregnant women (gravida 1 and para 1) attended our hospital in early pregnancy for a routine prenatal ultrasound screening. The Ultrasonography showed fused lower extremities that moved at unison. Two femurs in the thigh were present, while the tibias and fibulas were absent. The right upper limb was not confirmed, with a soft tissue mass located in the right upper limb region. In addition, it revealed an anechoic structure in the posterior cervical region initially diagnosed as cystic hygroma. There was only one umbilical artery and one umbilical vein visible within the umbilical cord. A new type of sirenomelia was diagnosed through 2D and 3D Ultrasonography in early pregnancy, which was different from the reported types and was then considered as a new subtype.
Publicações recentes
Prenatal Ultrasound Diagnosis of Sirenomelia Sequence in First Trimester: A Case Report.
A study on the diagnostic value and classification of sirenomelia by prenatal ultrasonography.
Sirenomelia With Complete Caudal Regression in a Preterm Infant Born to a Mother With Poorly Controlled Type 1 Diabetes Mellitus: A Case Report on Clinical Presentation and Perinatal Management Challenges.
Sirenomelia in a preterm neonate: a rare and lethal congenital anomaly.
A new type of sirenomelia with dysplastic upper limb and cystic hygroma diagnosed in early pregnancy through 2D and 3D ultrasonography: case report.
📚 EuropePMC286 artigos no totalmostrando 94
Prenatal Ultrasound Diagnosis of Sirenomelia Sequence in First Trimester: A Case Report.
Journal of clinical ultrasound : JCUA study on the diagnostic value and classification of sirenomelia by prenatal ultrasonography.
BMC pregnancy and childbirthSirenomelia With Complete Caudal Regression in a Preterm Infant Born to a Mother With Poorly Controlled Type 1 Diabetes Mellitus: A Case Report on Clinical Presentation and Perinatal Management Challenges.
CureusSirenomelia in a preterm neonate: a rare and lethal congenital anomaly.
The Pan African medical journalA new type of sirenomelia with dysplastic upper limb and cystic hygroma diagnosed in early pregnancy through 2D and 3D ultrasonography: case report.
Taiwanese journal of obstetrics & gynecologyMonochorionic twin pregnancy complicated by sirenomelia: A rare clinical encounter.
Tropical doctorSirenomelia and the Spectrum of Caudal Anomalies: Clinical Reflections From a Preterm Termination.
Clinical case reportsSirenomelia in Twin IVF Pregnancy: A Rare Case Report.
Clinical case reportsA Practical Prenatal Ultrasound Classification System for Lower Limb Anomalies-PRELLIM Classification.
Prenatal diagnosisFirst-trimester ultrasound diagnosis of sirenomelia: A case report.
Case reports in women's healthSirenomelia with alveolar capillary dysplasia: An unusual association.
Medical journal, Armed Forces IndiaSirenomelia-Challenges and Treatment Approach in a Rare Case.
Birth defects research[Sirenomelia: a case report].
Revista medica del Instituto Mexicano del Seguro SocialMermaid Syndrome: Navigating the Challenges of a Rare Congenital Disorder.
CureusPrenatal and postnatal imaging for early detection of sirenomelia: A case study.
Journal of clinical ultrasound : JCUPersistent Cloaca and Cloacal Variants in Males: Qualitative Review of a Neglected Anomaly.
Journal of Indian Association of Pediatric SurgeonsSirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report.
Journal of medical case reportsTracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
Orphanet journal of rare diseasesDefective blastogenesis of postnatally diagnosed type VI sirenomelia in a young primigravida: A case report.
SAGE open medical case reportsSirenomelia: An anatomical assessment and genetic sex determination of two cases.
Journal of anatomySurgical Management of Sirenomelia: A Case Study.
Plastic and reconstructive surgery. Global openA rare case of fetal sirenomelia malformation in the third trimester with its ultrasound appearance and review of the literature.
International journal of surgery case reportsSirenomelia: A Tale of Two Mermaids.
Journal of obstetrics and gynaecology of IndiaSirenomelia in Twin Pregnancy: A Case Report.
CureusPrenatal sirenomelia diagnosis in the first trimester: A case report and literature review.
Clinical case reportsSirenomelia- A rare congenital anomaly: Case report.
Journal of education and health promotionTMEM132A regulates mouse hindgut morphogenesis and caudal development.
Development (Cambridge, England)Mermaid syndrome: Rare genetic anomaly.
JPMA. The Journal of the Pakistan Medical AssociationCaudal Regression Syndrome-A Narrative Review: An Orthopedic Point of View.
Children (Basel, Switzerland)Sirenomelia or "Mermaid Syndrome" in a Twin Pregnancy: A Case Report.
CureusSirenomelia with associated systemic anomalies - an autopsy report in a full term neonate.
Polish journal of pathology : official journal of the Polish Society of PathologistsSpectrum of fetal limb anomalies.
Journal of clinical ultrasound : JCUSirenomelia, renal agenesis and normal amniotic fluid volume.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologySirenomelia: Review of a Rare Syndrome with Case Report, Review of Anatomy, and Thoughts on Management.
Plastic and reconstructive surgeryA case of sirenomelia associated with atrial septal defect: A rare case report.
Annals of medicine and surgery (2012)Mermaid syndrome: A case report in Somalia.
Annals of medicine and surgery (2012)NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.
American journal of medical genetics. Part ASirenomelia: A case report.
SAGE open medical case reportsSix-month survival of a monochorionic monoamniotic twin with sirenomelia.
Birth defects researchThe broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Clinical geneticsIn search of the earliest images of symmelia in works of art.
American journal of medical genetics. Part C, Seminars in medical geneticsCraniopagus parasiticus: successful separation of a 28-week preterm newborn from parasite sibling twin bearing lethal congenital anomalies associated to Cantrell's pentad and sirenomelia-case-based review of the literature.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMermaid syndrome associated with VACTERL-H syndrome.
Folia medicaSirenomelia: two case reports.
Journal of medical case reportsSuccessful Expectant Management of the Anomalous Fetus with Sirenomelia in Twin Pregnancy: A Case Report and Literature Review.
International medical case reports journalCharacterizing the coalescence area of conjoined twins to elucidate congenital disorders in singletons.
Clinical anatomy (New York, N.Y.)Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures.
American journal of medical genetics. Part ADichorionic twin pregnancy with sirenomelia and chromosomal anomaly in 1 fetus: A case report.
MedicineCaudal Regression Syndrome.
Children (Basel, Switzerland)Depiction of ectrodactyly, sirenomelia and cyclopia in a figure by Hokusai.
American journal of medical genetics. Part C, Seminars in medical geneticsRoutine first-trimester ultrasound screening using a standardized anatomical protocol.
American journal of obstetrics and gynecologyThe Spectrum of Congenital Central Nervous System Anomalies Among Stillborn: An Autopsy Based Study.
Annals of neurosciencesA Rare Case Report of Sirenomelia Following Intracytoplasmic Sperm Injection Embryo Transfer.
Journal of human reproductive sciencesSirenomelia (Mermaid Syndrome): A Case Report.
Turk patoloji dergisiSirenomelia, case report and review of the literature.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansExome sequencing identifies the first genetic determinants of sirenomelia in humans.
Human mutationFirst-trimester sonographic diagnosis of sirenomelia: A multicenter series of 12 cases and review of the literature.
Prenatal diagnosisA Case of Type I Sirenomelia Complicated by Severe Oligohydramnios in the First Trimester.
Case reports in obstetrics and gynecologySirenomelia (mermaid syndrome): a rare congenital disorder.
BMJ case reportsSirenomelia associated with an anterior abdominal wall defect: a case report.
Journal of medical case reportsSirenomelia and maternal chlamydia trachomatis infection: a case report and review.
Fetal and pediatric pathologyA Case of Sirenomelia: A Mermaid Baby.
Journal of obstetrics and gynaecology of IndiaPrenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis.
Case reports in obstetrics and gynecologySirenomelia in twin pregnancy: A case report and literature review.
MedicineMermaid Syndrome: A Case Report of a Rare Congenital Anomaly in Full-Term Neonate with Thumb Deformity.
AJP reportsA Case of Sirenomelia Associated with Hypoplastic Left Heart with a Healthy Co-Twin: A Rare Entity.
Case reports in pediatricsFetal Sirenomelia Associated with an Abdominal Cyst Originating from a Saccular Cloaca.
Case reports in obstetrics and gynecologyMermaid Syndrome: A Case Report in Mauritius.
CureusHistory and highlights of the teratological collection in the Museum Anatomicum of Leiden University, The Netherlands.
American journal of medical genetics. Part APrenatal diagnosis of sirenomelia with anencephaly and craniorachischisis totalis: A case report study.
MedicineFusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report.
International medical case reports journalSirenomelia with VACTERL association-a rare anomaly.
Pediatrics and neonatologySirenomelia associated with Hypoplastic Left Heart in a Newborn.
Balkan journal of medical genetics : BJMGSirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report.
Pathology, research and practicePrenatal diagnosis of sirenomelia in the second trimester of pregnancy using two-dimensional ultrasound, three-dimensional ultrasound and magnetic resonance imaging.
Radiologia brasileiraSirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.
Birth defects researchFetal MR Imaging Analysis of Sirenomelia with Clinico Radiographic Correlation: A Case Report.
Journal of clinical and diagnostic research : JCDRExposure to methylergonovine maleate as a cause of sirenomelia.
Birth defects research. Part A, Clinical and molecular teratologyDermatoglyphics in kidney diseases: a review.
SpringerPlusSirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis.
Birth defects research. Part A, Clinical and molecular teratologyPrenatal diagnosis of sirenomelia in the first trimester: A case report.
Turkish journal of obstetrics and gynecologyPrenatal diagnosis of sirenomelia by two-dimensional and three-dimensional skeletal imaging ultrasound.
Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen banFOUR CASES OF SIRENOMELIA WITH DIFFERENT MANIFESTATION.
Genetic counseling (Geneva, Switzerland)Routine screening for fetal limb abnormalities in the first trimester.
Prenatal diagnosisSirenomelia: Expansion of the Phenotype.
Indian journal of pediatricsSirenomelia with upper limb malformation: a case report and review of the literature.
Clinical and experimental obstetrics & gynecologySacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature.
Journal of clinical and diagnostic research : JCDRCongenital limb deficiencies in Alberta-a review of 33 years (1980-2012) from the Alberta Congenital Anomalies Surveillance System (ACASS).
American journal of medical genetics. Part ASirenomelia or mermaid syndrome.
The Indian journal of medical researchSirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital.
BMJ case reportsSirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansSirenomelia: The mermaid syndrome: Report of two cases.
Journal of natural science, biology, and medicineSirenomelia: two cases in Cali, Colombia.
BMJ case reportsSirenomelia and severe caudal regression syndrome.
Saudi medical journalAssociações
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A sirenomelia é uma malformação congênita rara do desenvolvimento fetal caracterizada pela fusão dos membros inferiores, conhecida também como síndrome da sereia. Ela vem acompanhada de malformações graves nos sistemas esquelético, urinário e gastrointestinal.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
6 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Sirenomelia. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sirenomelia
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Sirenomelia
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
