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Síndrome Currarino
ORPHA:1552CID-10 · Q87.8CID-11 · LD2F.1YOMIM 176450DOENÇA RARA

A síndrome de Currarino (SC) é uma doença congênita rara caracterizada pela tríade de malformações anorretais (ARMs) (geralmente estenose anal), massa pré-sacral (geralmente meningocele sacral anterior (ASM) ou teratoma) e anomalias sacrais (isto é, agenesia total ou parcial do sacro e cóccix ou deformidade das vértebras sacrais).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de Currarino (SC) é uma doença congênita rara caracterizada pela tríade de malformações anorretais (ARMs) (geralmente estenose anal), massa pré-sacral (geralmente meningocele sacral anterior (ASM) ou teratoma) e anomalias sacrais (isto é, agenesia total ou parcial do sacro e cóccix ou deformidade das vértebras sacrais).

Publicações científicas
196 artigos
Último publicado: 2026 Apr 16

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
1.0
Europe
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
10 sintomas
🫘
Rins
5 sintomas
🧠
Neurológico
3 sintomas
🦴
Ossos e articulações
1 sintomas
😀
Face
1 sintomas
💪
Músculos
1 sintomas

+ 21 sintomas em outras categorias

Características mais comuns

100%prev.
HP:0003577
Frequência: 22/22
95%prev.
Hemissacro
Frequente (79-30%)
90%prev.
Teratoma sacrococcígeo
Muito frequente (99-80%)
90%prev.
Aplasia/Hipoplasia do sacro
Muito frequente (99-80%)
55%prev.
Constipação crônica
Frequente (79-30%)
55%prev.
Estenose anal
Frequente (79-30%)
42sintomas
Muito frequente (4)
Frequente (7)
Ocasional (18)
Muito raro (3)
Sem dados (10)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 42 características clínicas mais associadas, ordenadas por frequência.

HP:0003577
Frequência: 22/22100%
HemissacroHemisacrum
Frequente (79-30%)95%
Teratoma sacrococcígeoSacrococcygeal teratoma
Muito frequente (99-80%)90%
Aplasia/Hipoplasia do sacroAplasia/Hypoplasia of the sacrum
Muito frequente (99-80%)90%
Constipação crônicaChronic constipation
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico196PubMed
Últimos 10 anos89publicações
Pico202213 papers
Linha do tempo
2026Hoje · 2026🧪 2008Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.

MNX1Motor neuron and pancreas homeobox protein 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Transcription factor (By similarity). Recognizes and binds to the regulatory elements of target genes, such as visual system homeobox CHX10, negatively modulating transcription (By similarity). Plays a role in establishing motor neuron identity, in concert with LIM domain transcription factor LMO4 (By similarity). Involved in negatively modulating transcription of interneuron genes in motor neurons, acting, at least in part, by blocking regulatory sequence interactions of the ISL1-LHX3 complex (

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Currarino syndrome

The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the Currarino syndrome which is caused by dorsal-ventral patterning defects during embryonic development. The syndrome occurs in the majority of patients as an autosomal dominant trait.

EXPRESSÃO TECIDUAL(Tecido-específico)
Pâncreas
7.7 TPM
Linfócitos
5.3 TPM
Intestino delgado
3.4 TPM
Cólon transverso
2.9 TPM
Estômago
1.8 TPM
OUTRAS DOENÇAS (1)
Currarino triad
HGNC:4979UniProt:P50219

Variantes genéticas (ClinVar)

153 variantes patogênicas registradas no ClinVar.

🧬 MNX1: NM_005515.4(MNX1):c.378_384dup (p.Ala129fs) ()
🧬 MNX1: NM_005515.4(MNX1):c.568C>T (p.Gln190Ter) ()
🧬 MNX1: GRCh37/hg19 7q36.2-36.3(chr7:153906860-158923491)x3 ()
🧬 MNX1: GRCh37/hg19 7q33-36.3(chr7:137521595-159119707)x1 ()
🧬 MNX1: NM_005515.4(MNX1):c.558C>G (p.Tyr186Ter) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Currarino

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

1 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
91 papers (10 anos)
#1

Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report.

Journal of Yeungnam medical science2026

The 7q terminal deletion syndrome is a rare genetic disorder caused by the deletion of the long arm of chromosome 7 between 7q32 and 7q36.3. It is characterized by various clinical symptoms, such as abnormal facial features and impaired mental and physical development. Currarino syndrome is defined by a triad of sacral bone defects, anorectal malformations, and presacral masses and is often associated with mutations in the MNX1 gene located at 7q36.3. Only a few cases of 7q terminal deletion syndrome have been reported in Korea. In one of these familial cases, Currarino syndrome was associated with a complex chromosomal rearrangement involving a 7q deletion and an 8q duplication. However, to our knowledge, cases of isolated 7q terminal deletions without other structural chromosomal abnormalities have not been described in the literature. We report the case of a 9-month-old girl who presented with the complete Currarino syndrome triad and a 7q35 to 7q36.3 (12 Mb) deletion identified by chromosomal microarray analysis. To the best of our knowledge, this is the first Korean case report of the Currarino triad caused by an isolated terminal 7q deletion.

#2

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

Congenital anomalies2026

Currarino syndrome (CS) is a congenital disorder caused by MNX1 gene mutation, resulting in abnormal caudal cell mass development. Clinical presentation varies from severe to mild forms. Classic triad of CS includes sacral agenesis, presacral mass, and anorectal malformation (ARM). We report a pair of monozygotic twins, both with the MNX1: c.780C>G mutation, presenting with different clinical phenotypes of Currarino syndrome (CS). Both were suspected of anorectal atresia in utero, and postnatal diagnosis confirmed CS with tethered cord syndrome (TCS). They underwent staged surgeries, with normal growth at 10 months follow-up. Additionally, a retrospective analysis of 95 CS cases diagnosed between April 2010 and April 2024 at Shanghai Xinhua Hospital was performed. Clinical, imaging, and pathological data were collected, and binary logistic regression was used to analyze the correlation between clinical factors and TCS. A literature review of twin CS cases was also conducted. Of the 95 patients, 23.2% had complete CS, and 76.8% had incomplete CS. TCS was present in 55.8% of cases. Logistic regression showed no significant correlation between age, sex, sacral deformity severity, ARM type, presacral mass, and TCS. Two previous twin CS cases were identified, both with differing phenotypes. CS exhibits phenotypic variability, and monozygotic twins with the same MNX1 mutation may present with different severities. The MNX1: c.780C>G mutation broadens the genetic spectrum of CS. TCS is common, emphasizing the need for multidisciplinary management. Surgical approaches should be personalized based on presentation.

#3

Surgical repair of prolapsed stoma via the buttonpexy approach: a case series.

Journal of surgical case reports2026 Jan

Stoma prolapse is a frequent complication following stoma formation in pediatric patients and often necessitates surgical intervention. The buttonpexy technique offers a minimally invasive, low-cost, and anesthesia-sparing alternative to formal stoma revision. This case series highlights its safety and effectiveness in managing pediatric stoma prolapse. Five pediatric patients with stoma prolapse secondary to various underlying conditions, including anorectal malformation, Hirschsprung's disease, and Currarino syndrome, were managed using the buttonpexy technique. In each case, the prolapsed bowel was gently reduced, and pledgets derived from intravenous tubing were secured above and below the skin margins to anchor the stoma locally. The procedures were performed under local anesthesia, and all patients tolerated them well. Four patients demonstrated complete resolution without recurrence during follow-up, while one experienced partial prolapse that was successfully corrected with a repeat buttonpexy. None of the patients required conversion to formal stoma revision, and no complications such as infection, necrosis, or bleeding were observed. Follow-up ranged from one to eight months, confirming sustained stoma stability until definitive closure. The buttonpexy technique is a simple, safe, reproducible method for managing pediatric stoma prolapse. It can be performed under local anesthesia, minimizing anesthetic exposure and hospital stay. This approach provides a practical first-line option before considering formal revision, especially in resource-limited or pediatric settings where minimizing surgical and anesthetic risks is paramount.

#4

Invited commentary re: "Malignant transformation of sacrococcygeal teratoma (SCT) versus presacral teratoma in currarino syndrome (CS): Results of 'The SCT-study,'" -van Heurn et al.

Journal of pediatric surgery2026 Feb 05
#5

Familial constipation and death: one family with Currarino syndrome.

BMJ case reports2025 Apr 30

Publicações recentes

Ver todas no PubMed

📚 EuropePMC136 artigos no totalmostrando 87

2026

Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.

Congenital anomalies
2026

Invited commentary re: "Malignant transformation of sacrococcygeal teratoma (SCT) versus presacral teratoma in currarino syndrome (CS): Results of 'The SCT-study,'" -van Heurn et al.

Journal of pediatric surgery
2026

Surgical repair of prolapsed stoma via the buttonpexy approach: a case series.

Journal of surgical case reports
2026

Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report.

Journal of Yeungnam medical science
2025

Naked sacrococcygeal teratoma associated with dorsal meningocoele and sacrococcygeal inversion: an atypical presentation of Currarino syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Sacrococcygeal Teratomas in Currarino Syndrome: A Multicenter Review of Tumor Characteristics, Surgical Outcomes, and Recurrence.

Journal of pediatric surgery
2025

Optimizing surveillance strategies for sacrococcygeal teratoma: A Midwest pediatric surgery consortium multi-institutional study.

International journal of cancer
2025

Neurosurgical management of a giant anterior sacral meningocele in a patient with combined Currarino syndrome and caudal duplication anomaly: illustrative case.

Journal of neurosurgery. Case lessons
2025

Familial constipation and death: one family with Currarino syndrome.

BMJ case reports
2024

Currarino syndrome with immature teratoma: A case report with review of literature.

Journal of cancer research and therapeutics
2024

Non-Syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors: Data of 2610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population.

Cancers
2024

Long-term (> 10 years) bowel function of anorectal malformations: a retrospective single-center study.

Pediatric surgery international
2024

Can Anorectal Stenosis be Managed With Dilations Alone? A PCPLC Review.

Journal of pediatric surgery
2024

Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report.

Molecular syndromology
2023

Treatment Strategy for Currarino Syndrome Complicated With Anorectal Stenosis.

Cureus
2023

Managing Recurrent Teratoma in Currarino Syndrome.

Cureus
2024

Variability in Surveillance Strategies Following Resection of Sacrococcygeal Teratoma.

The Journal of surgical research
2023

[A Surgical Case of Currarino Syndrome with Syringomyelia].

Brain and nerve = Shinkei kenkyu no shinpo
2023

Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome.

Frontiers in veterinary science
2023

Currarino Syndrome Presenting in Adulthood: A Rare Case.

Cureus
2023

Selection of operative approach in children with Currarino syndrome.

Pediatric surgery international
2022

Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case.

Journal of neurosurgery. Case lessons
2022

Surgical management of Currarino syndrome in elderly patient with infected pre-sacral mass: Technical nuances and review of literature.

Clinical neurology and neurosurgery
2022

Currarino Syndrome: A Rare Case Report of Sepsis and Its Management.

Puerto Rico health sciences journal
2022

Case report of experience of misdiagnosis of Currarino syndrome as ovarian cyst.

Clinical case reports
2022

Internal fat prolapse from ischiorectal fossa masquerading as currarino syndrome.

African journal of paediatric surgery : AJPS
2022

Currarino syndrome as an incidental radiologic finding in a patient with acute flank pain: A case report.

Radiology case reports
2022

Primitive neuroectodermal tumor in a child with Currarino syndrome.

The Turkish journal of pediatrics
2022

Complete Currarino Triad Presenting With Chronic Constipation.

Cureus
2022

Characterization of complete Currarino syndrome in pediatrics-a comparison between CT and MRI.

Annals of translational medicine
2022

18F-FDG PET/CT of Malignant Presacral Masses in Currarino Syndrome.

Clinical nuclear medicine
2022

Corrigendum Presacral Neuroendocrine Tumors Associated with the Currarino Syndrome. Am J Med Genet A. 2021;185(5):1582-1588. Doi:10.1002/ajmg.a.62145.

American journal of medical genetics. Part A
2021

Clinical Quiz-A Rare Case of Anal Canal Duplication in the Context of Currarino Syndrome.

European journal of pediatric surgery reports
2021

Generation of an hiPSC-1 knock-in line expressing TY1-tagged MNX1-protein together with mScarlet.

Stem cell research
2021

Postoperative complications and long-term outcomes in Currarino syndrome.

Pediatric surgery international
2021

Peripartum Diagnosis of Currarino Syndrome With Anterior Sacral Meningocele: A Case Report.

A&amp;A practice
2021

Currarino Syndrome in homozygous twins detected by following ultrasound during the fetal period.

Pediatrics international : official journal of the Japan Pediatric Society
2021

The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.

Birth defects research
2021

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.

Orphanet journal of rare diseases
2021

Presacral neuroendocrine tumors associated with the Currarino syndrome.

American journal of medical genetics. Part A
2021

68Ga DOTATATE PET/CT imaging of Currarino syndrome with neuroendocrine tumor.

Japanese journal of clinical oncology
2022

Currarino syndrome - a pre and post natal diagnosis correlation: case report and literature review.

The journal of maternal-fetal &amp; 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 Obstetricians
2021

Colostomy Takedown: Ischemic Complication following Anorectal Malformation Surgery.

Case reports in surgery
2020

Currarino Syndrome Variant: Revisited.

Journal of Indian Association of Pediatric Surgeons
2021

A case of Currarino syndrome in an adult female presenting with refractory chronic constipation.

Revista espanola de enfermedades digestivas
2021

Letter: Sacrum agenesis and scimitar sacrum in Currarino syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

Currarino Syndrome: A Rare Condition With Potential Connection to Neuroendocrine Tumors.

Pancreas
2020

Currarino syndrome in an elderly man: Multimodality imaging findings.

Radiology case reports
2020

Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome.

Orphanet journal of rare diseases
2020

Caudal regression syndrome (Currarino syndrome) with chromosom mutation 9.

Radiology case reports
2020

Sacrum agenesis and scimitar sacrum in Currarino syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2020

Laparoscopic-Assisted Anorectal Pull-Through for Currarino Syndrome.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2020

Currarino syndrome presenting as a cerebrospinal fluid leak from the dermal sinus tract: case report.

Journal of neurosurgery. Pediatrics
2020

[Chronic constipation due to Currarino syndrome].

Anales de pediatria
2019

[Long-term efficacy analysis of laparoscopic-assisted anorectoplasty for high and middle imperforate anus].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
2019

Malignant neuroendocrine tumour in an adult female diagnosed with Currarino syndrome.

South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie
2019

Adenocarcinoma and neuroendocrine tumor arising within presacral teratoma associated with Currarino syndrome: A case report.

The Indian journal of radiology &amp; imaging
2020

Concurrent Hirschsprung's disease and anorectal malformation: a systematic review.

Pediatric surgery international
2019

Currarino syndrome in an adult woman.

Obstetrics &amp; gynecology science
2019

Neurosurgical management of Currarino syndrome: A case series and review of literature.

Surgical neurology international
2019

Severe bacterial meningitis due to an enterothecal fistula in a 6-year-old child with Currarino syndrome: evaluation of surgical strategy with review of the literature.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2019

Atypical presentation of currarino syndrome: A case report.

International journal of surgery case reports
2019

Malignant transformation of presacral mass in Currarino syndrome.

Pediatric blood &amp; cancer
2018

Currarino syndrome: repair of the dysraphic anomalies and resection of the presacral mass in a combined neurosurgical and general surgical approach.

Journal of neurosurgery. Pediatrics
2018

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report.

Italian journal of pediatrics
2018

Multiple neurosurgical treatments for different members of the same family with Currarino syndrome.

Neuro-Chirurgie
2018

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.

Annals of laboratory medicine
2018

How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2017

Combined abdomino-sacral laparoscopically assisted approach for retrorectal mass resection in a patient with Currarino's Syndrome - video vignette.

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
2017

Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study.

Journal of pediatric surgery
2019

Carcinoid transformation of presacral dermoid cyst in patient with currarino syndrome: a case report.

British journal of neurosurgery
2017

Multidisciplinary surgical treatment of presacral meningocele and teratoma in an adult with Currarino triad.

Surgical neurology international
2017

Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios.

Gene
2017

Cushing's syndrome in infancy due to ectopic ACTH secretion by a sacro-coccygeal teratoma.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2017

Recurrent Abortion and Tethered Cord Syndrome Caused by Anterior Sacral Meningocele: A Report of a Rare Case with a Review of the Literature.

World neurosurgery
2017

The Currarino triad: What pediatric surgeons need to know.

Journal of pediatric surgery
2017

Currarino Syndrome in a Fetus, Infant, Child, and Adolescent: Spectrum of Clinical Presentations and Imaging Findings.

Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes
2016

Currarino Syndrome and the Effect of a Large Anterior Sacral Meningocele on Distal Colostogram in an Anorectal Malformation.

Journal of radiology case reports
2016

Currarino syndrome: Rare clinical variants.

Journal of Indian Association of Pediatric Surgeons
2017

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2.

Clinical genetics
2016

First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation.

Journal of digestive diseases
2016

Ectopic Vas Deferens Inserting Into Distal Retroiliac Ureter in the Currarino Syndrome.

Urology
2016

A Very Rare Cause of Anal Atresia: Currarino Syndrome.

Journal of clinical medicine research
2016

Pronephric tubule morphogenesis in zebrafish depends on Mnx mediated repression of irx1b within the intermediate mesoderm.

Developmental biology
2015

Complete currarino syndrome recognized in adulthood.

Journal of clinical imaging science
2015

Malignant transformation in sacrococcygeal teratoma and in presacral teratoma associated with Currarino syndrome: a comparative study.

Journal of pediatric surgery
2016

Phenotype analysis impacts testing strategy in patients with Currarino syndrome.

Clinical genetics
Ver todos os 136 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Síndrome Currarino.

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome Currarino

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Currarino syndrome associated with an isolated 7q terminal deletion in Korea: a case report.
    Journal of Yeungnam medical science· 2026· PMID 41486773mais citado
  2. Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.
    Congenital anomalies· 2026· PMID 41871837mais citado
  3. Surgical repair of prolapsed stoma via the buttonpexy approach: a case series.
    Journal of surgical case reports· 2026· PMID 41552801mais citado
  4. Invited commentary re: "Malignant transformation of sacrococcygeal teratoma (SCT) versus presacral teratoma in currarino syndrome (CS): Results of 'The SCT-study,'" -van Heurn et al.
    Journal of pediatric surgery· 2026· PMID 41651110mais citado
  5. Familial constipation and death: one family with Currarino syndrome.
    BMJ case reports· 2025· PMID 40306754mais citado
  6. Surgical management of anterior sacral meningoceles: a case series and systematic review.
    Childs Nerv Syst· 2026· PMID 41989599recente
  7. Initially suspected case of prenatal VACTERL association ultimately diagnosed as Currarino syndrome via magnetic resonance imaging: a case description.
    Quant Imaging Med Surg· 2026· PMID 41972029recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1552(Orphanet)
  2. OMIM OMIM:176450(OMIM)
  3. MONDO:0008305(MONDO)
  4. GARD:1626(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q5194974(Wikidata)

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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome Currarino
Compêndio · Raras BR

Síndrome Currarino

ORPHA:1552 · MONDO:0008305
Prevalência
1-9 / 100 000
Herança
Autosomal dominant, Not applicable
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
CID-11
Início
All ages
Prevalência
1.0 (Europe)
MedGen
UMLS
C1415596
Testes
8 disponíveis
EuropePMC
Wikidata
Papers 10a
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