A sequência de regressão caudal é uma malformação congênita rara dos segmentos espinhais inferiores associada à aplasia ou hipoplasia do sacro e da coluna lombar.
Introdução
O que você precisa saber de cara
A sequência de regressão caudal é uma malformação congênita rara dos segmentos espinhais inferiores associada à aplasia ou hipoplasia do sacro e da coluna lombar.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 12 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 29 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Multigenic/multifactorial, Not applicable.
Probable planar cell polarity effector involved in cilium biogenesis. May regulate protein and membrane transport to the cilium. Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies. May regulate the morphogenesis of hair follicles which depends on functional primary cilia. Binds phosphatidylinositol 3-phosphate with highest affinity, followed by phosphatidylinositol 4-ph
CytoplasmCytoplasm, cytoskeletonCytoplasm, cytoskeleton, cilium basal body
Cell membrane
Neural tube defects
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
Variantes genéticas (ClinVar)
31 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
19 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de regressão caudal
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Publicações mais relevantes
Positive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.
Caudal regression syndrome (CRS) is a malformation that occurs during the fetal period, and is mainly characterized by the incomplete development of the spinal cord (SC), which is often accompanied by other developmental abnormalities. The present study was performed in a 2-month-old boy with CRS, born to a type I diabetic mother, who presented interruption of the SC at the L5-L4 level, pelvic dislocation, sacral agenesis, hypoplastic femurs, lack of innervation of the lower limbs (spastic paraplegia), and a neurogenic bladder and bowel. Given the positive results we obtained in a previous study in a similar case, this patient was treated with GH (0.04 mg/kg/day, 5 days/week), melatonin (20 mg/day), and rehabilitation. The treatment only lasted 18 months, due to family problems. Blood tests and physical examinations were performed every 3 months initially and then every 6 months. Interestingly, despite GH administration, the child presented low plasma glucose and IGF-I values, which did not increase throughout the treatment, although there was significant growth of the patient, also indicated by elevated plasma alkaline phosphatase values. At the end of treatment, the gross motor function test (GMFM)-88 score increased from 0.93 (on admission) to 47.94. Sensory responses appeared in the lower limbs, and the patient was able to move his leg muscles in all directions and control his sphincters. Ten months after discharge, the patient was able to walk only with the aid of a back walker. GH treatment did not produce any adverse effects. In summary, despite the short duration of treatment, GH plus rehabilitation has been useful in innervating distal areas below the level of the incomplete spinal cord in CRS. GH likely acted on ependymal neural stem cells, as the hormone does on neurogenic niches in the brain, and rehabilitation helped achieve near-full functionality.
Sacral Agenesis.
Sacral agenesis (SA) is a rare congenital neurological disorder characterized by the incomplete development of the sacral spine. This work summarizes the scientific literature on SA, including the following sections: pathogenesis, epidemiology, risk factors, genetics, clinical manifestations, radiological classification, diagnosis, and management. The aim of this work is to provide the most up-to-date and comprehensive medical narrative literature review for this rare congenital disease. This narrative review used PubMed, MEDLINE, Science Direct, and Embase databases. Between December 2022 and September 2023, the following terms were used for the inclusion of original articles: "rare disease," "caudal regression," "diabetic embryopathy," and "sacral agenesis.? The International Sacral Agenesis/Caudal Regression Association participated in reviewing this manuscript and drafting a paragraph on behalf of those living with this condition. The clinical manifestations of SA are heterogeneous. The most prevalent manifestations involve peripheral neurological, motor, urinary, and digestive issues. The prognosis depends on the severity and associated abnormalities. Patients usually exhibit normal mental function but require a multidisciplinary evaluation and largely supportive treatment that enables them to live successful lives. More awareness and research are needed.
Effective use of frequent enemas and abdominal care in a very-low-birth-weight infant with caudal regression syndrome.
Purple Urine Bag Syndrome in a Young Adult With Neurogenic Bladder Secondary to Partial Caudal Regression Syndrome: A Case Report.
Purple urine bag syndrome (PUBS) is a rare, benign condition associated with long-term urinary catheterization, caused by bacterial metabolism of urinary indoles into blue and red pigments. We present the case of a 22-year-old female with a neurogenic bladder secondary to partial caudal regression syndrome who developed PUBS. The patient presented with a history of purple discoloration of her catheter bag. She had been on continuous bladder drainage since age three, with routine catheter changes every two weeks. Management involved patient reassurance and emphasis on catheter hygiene. A permanent surgical solution for her underlying neurogenic bladder was not pursued after a multidisciplinary review concluded that available options were either anatomically nonviable or unacceptable to the patient. This case highlights the importance of recognizing PUBS to alleviate patient anxiety, provides a clear rationale for conservative management, and underscores the challenges of managing chronic bladder dysfunction in patients with complex congenital anomalies. The patient provided broad written informed consent for publication.
From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.
Prenatal detection of bilateral clubfoot should prompt a systematic evaluation for associated anomalies, particularly sacral defects and other lower-limb malformations. Arthrogryposis must also be considered in the differential diagnosis. Importantly, prenatal imaging should be complemented by postnatal assessments, which may, as in the present case, uncover a misdiagnosis with major implications for future pregnancies. This case report illustrated how detailed postnatal investigations led to the revision of an initial diagnosis of caudal regression syndrome to the final, exceptionally rare diagnosis of Wieacker-Wolff Syndrome. Such diagnostic correction carries substantial consequences for genetic counseling. Wieacker-Wolff syndrome, also referred to as intellectual disability, developmental delay, and contractures syndrome, is a severe neurodevelopmental disorder characterized by arthrogryposis and intellectual disability. It is inherited in an X-linked manner, either dominant or recessive, and is caused by pathogenic variants in the ZC4H2 gene.
Publicações recentes
Therapeutic Termination of Pregnancy Under the Umbrella of Environmental, Socio-Economic Factors and High-Risk Pregnancy.
Purple Urine Bag Syndrome in a Young Adult With Neurogenic Bladder Secondary to Partial Caudal Regression Syndrome: A Case Report.
From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.
Sirenomelia and the Spectrum of Caudal Anomalies: Clinical Reflections From a Preterm Termination.
Sirenomelia in Twin IVF Pregnancy: A Rare Case Report.
📚 EuropePMC175 artigos no totalmostrando 126
Purple Urine Bag Syndrome in a Young Adult With Neurogenic Bladder Secondary to Partial Caudal Regression Syndrome: A Case Report.
CureusFrom Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.
CureusSirenomelia 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 reportsEffective use of frequent enemas and abdominal care in a very-low-birth-weight infant with caudal regression syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyImaging Spectrum of Congenital Spinal Abnormalities: A Pictorial Review.
CureusPrenatal diagnosis of caudal regression syndrome with maternal diabetes mellitus via ultrasound: a case description.
Quantitative imaging in medicine and surgerySacral Agenesis Type II in a 12-Year-Old Patient: A Delayed Presentation in a Low-Resource Setting.
CureusPositive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.
International journal of molecular sciencesNeonatal caudal regression syndrome: Devil lies in details.
Medical journal, Armed Forces IndiaSirenomelia-Challenges and Treatment Approach in a Rare Case.
Birth defects researchAnalysis of Caudal Regression Syndrome: A Case Report From Bulgaria.
CureusCaudal regression syndrome with incidental brain tumor in a woman: A case report.
Radiology case reportsOptimizing sacral screw fixation in patients with caudal regression syndrome.
Spine deformityPersistent Cloaca and Cloacal Variants in Males: Qualitative Review of a Neglected Anomaly.
Journal of Indian Association of Pediatric SurgeonsCaudal regression syndrome associated with obstructive genital tract anomaly.
BMJ case reportsRadiological and clinical aspect of Caudal regression syndrome associated with dorsal hemivertebra without maternal diabetes.
Radiology case reportsBeyond the Tailbone: A Family's Journey Through Caudal Regression Syndrome-A Triple Sibship.
Pediatric neurologyRe: Factors affecting clean intermittent catheterization compliance among children and adolescents with neurogenic bladder due to spina bifida and caudal regression syndrome.
Journal of pediatric urologyCaudal Regression Syndrome First Diagnosed in Adulthood: A Case Report and a Review of the Literature.
Diagnostics (Basel, Switzerland)Wrongful birth and wrongful life lawsuits in obstetrics and gynecology.
American journal of obstetrics and gynecologyClinical and radiological evaluation of caudal regression syndrome.
Pediatric radiologyAberrant Dorsal Nerve Root as a Concomitant Cause of Spinal Cord Tethering Associated with a Dorsal Type Lipomyelomeningocele in a Child With Caudal Agenesis.
Nigerian journal of clinical practiceFactors affecting clean intermittent catheterization compliance among children and adolescents with neurogenic bladder due to spina bifida and caudal regression syndrome.
Journal of pediatric urologyLong-term outcomes in sacral agenesis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryImaging spectrum of spinal dysraphism: A diagnostic challenge.
SA journal of radiologyBrain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
Pediatric nephrology (Berlin, Germany)A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report.
The American journal of case reportsDefective blastogenesis of postnatally diagnosed type VI sirenomelia in a young primigravida: A case report.
SAGE open medical case reportsA 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 in Twin Pregnancy: A Case Report.
CureusCaudal regression syndrome type 1 with minimally invasive computed tomography and magnetic resonance imaging autopsy: a case report.
Journal of medical case reportsSacral agenesis without maternal diabetes: a case report.
Annals of medicine and surgery (2012)Patent ductus arteriosus stenting as therapeutic bridge in a patient with type A3 truncus arteriosus variant with multiple comorbidities.
Cardiology in the youngCongenital Anterior Dislocation of the Sacrococcygeal Bone in a Newborn.
Diagnostics (Basel, Switzerland)Case report: Sacral agenesis in two boxer dogs: clinical presentation, diagnostic investigations, and outcome.
Frontiers in veterinary scienceAtypical caudal regression syndrome with lumbar agenesis, hypoplastic sacrum without sacroiliac joints in the eastern Democratic Republic of Congo: a case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCaudal regression syndrome from radiology and clinical perspective: A case series and a proposed new integrated diagnostic algorithm.
Radiology case reportsThe clinical value of prenatal ultrasound in the diagnosis of caudal regression syndrome.
American journal of translational researchFetal Magnetic Resonance Imaging in Association With Antenatal Ultrasound in the Diagnosis of Caudal Dysgenesis: Report of Two Cases.
CureusCaudal Regression Syndrome-A Narrative Review: An Orthopedic Point of View.
Children (Basel, Switzerland)Caudal regression syndrome without maternal diabetes mellitus.
BMJ case reportsSirenomelia with associated systemic anomalies - an autopsy report in a full term neonate.
Polish journal of pathology : official journal of the Polish Society of PathologistsCaudal regression syndrome and interventional pain techniques.
Interventional pain medicineDiagnostic Utility of Spinal Ultrasounds in Neonates.
American journal of perinatologyCinematic Rendering of Caudal Regression Syndrome.
AJR. American journal of roentgenologyCaudal regression syndrome: Postnatal radiological diagnosis with literature review of 83 cases.
Radiology case reportsCaudal Regression Syndroma: A Rare Cause of Chronic Constipation.
Global pediatric healthCongenital defects and herpesvirus infection in beluga whale Delphinapterus leucas calves from the Critically Endangered Cook Inlet population.
Diseases of aquatic organismsContinence management in children with severe caudal regression syndrome: role of multidisciplinary team and long-term follow-up.
Pediatric surgery internationalNeurogenic Bladder-Induced Stone in a Pelvic Kidney of a Caudal Regression Syndrome Patient: Management of a Complex Case.
CureusPregnancy in a patient with caudal regression syndrome following continent bladder reconstruction.
The journal of obstetrics and gynaecology researchRecurrent Adipsic Hypernatremia in a Fully Independent Non-psychiatric Patient With Multiple Congenital Anomalies: A Case Report.
CureusSacrococcygeal Agenesis with Sacral Lipoma in a Child of a Non-Diabetic Mother.
Nigerian medical journal : journal of the Nigeria Medical AssociationCaudal Regression Syndrome - a rare congenital disorder: A case report.
JPMA. The Journal of the Pakistan Medical AssociationHybrid Renal Cortical Imaging with Single Photon Emission Computerized Tomography/Computed Tomography in a Pediatric Patient with Severe Caudal Regression Syndrome.
Molecular imaging and radionuclide therapyConus medullaris migration during the third trimester: A retrospective study.
Prenatal diagnosisThe broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Clinical geneticsNeonatal caudal regression syndrome.
Prenatal diagnosisContinuous ultrasound-guided sacral intervertebral block for postoperative analgesia in neonates.
Paediatric anaesthesiaAcute on chronic cervical myelopathy causing cervical segmental myoclonus in a high-level wheelchair athlete: a case report.
Spinal cord series and casesAsymptomatic bacteriuria and antibiotic resistance profile in children with neurogenic bladder who require clean intermittent catheterization.
Spinal cordThe VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.
Molecular genetics & genomic medicineCaudal Agenesis : Understanding the Base of the Wide Clinical Spectrum.
Journal of Korean Neurosurgical SocietySirenomelia: two case reports.
Journal of medical case reportsClinical and Radiologic Characteristics of Caudal Regression Syndrome in a 3-Year-Old Boy: Lessons from Overlooked Plain Radiographs.
Pediatric gastroenterology, hepatology & nutritionCurrarino syndrome - a pre and post natal diagnosis correlation: case report and literature review.
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 ObstetriciansA Rare Case of Caudal Regression Syndrome.
Neurology IndiaThe utility of ultrasonography in anesthesia management in 3 cases of caudal regression syndrome.
Paediatric anaesthesiaClinical and Radiological Characterization of an Infant with Caudal Regression Syndrome Type III.
Case reports in neurological medicineA rare report on 18-month survival of a dog born with multiple anomalies including atresia ani.
Morphologie : bulletin de l'Association des anatomistesCaudal Regression Syndrome.
Children (Basel, Switzerland)Caudal Regression Syndrome (Spinal Thoraco-lumbo-sacro-coccygeal Agenesis).
World neurosurgeryCaudal regression syndrome and a pelvic kidney: case report.
Anatomy & cell biologyCaudal regression syndrome (Currarino syndrome) with chromosom mutation 9.
Radiology case reportsSirenomelia (Mermaid Syndrome): A Case Report.
Turk patoloji dergisiCaudal Regression Syndrome Group 2.
Indian journal of pediatricsSirenomelia, 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 ObstetriciansCaudal Regression Syndrome-A Review Focusing on Genetic Associations.
World neurosurgeryVesicocutaneous fistula: continent vesicostomy, an easier route for comfortable clean intermittent catheterization.
Journal of pediatric urologyPregnancy in a woman with sacral agenesis from prenatal counseling to delivery: A case report.
The journal of obstetrics and gynaecology researchComplete Agenesis of Dorsal Wall of Sacral Canal: A Case Report.
CureusSurgical Correction of Spinopelvic Instability in Children With Caudal Regression Syndrome.
Global spine journalPrenatal Diagnosis of Enterolithiasis in 20 Cases.
Fetal diagnosis and therapyPrenatal diagnosis of caudal regression with heterotaxy syndrome: "A mermaid with a broken heart".
Echocardiography (Mount Kisco, N.Y.)[Caudal regression syndrome: about a case].
The Pan African medical journalCaudal regression syndrome in a fetus of a glucokinase-maturity-onset diabetes of the young pregnancy.
Diabetic medicine : a journal of the British Diabetic AssociationMermaid Syndrome: A Case Report in Mauritius.
CureusNeural Tube Defects in Embryonic Life: Lessons Learned From 340 Early Pregnancy Failures.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineA Rare Case of Caudal Regression Syndrome in a Foetus of Non-Diabetic Mother: A Case Report.
Polish journal of radiologyPierre Robin syndrome with caudal regression syndrome-a rare combination of congenital syndromes.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCongenital lumbar vertebrae agenesis in a lamb.
Veterinary research forum : an international quarterly journalA CASE OF UNCONTROLLED MATERNAL DIABETES MELLITUS ASSOCIATED WITH FETAL SACRAL AGENESIS.
Acta endocrinologica (Bucharest, Romania : 2005)Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex.
Case reports in pediatricsCaudal Regression Syndrome with Bilateral Microtia.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPMagnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences.
Journal of clinical and diagnostic research : JCDRSirenomelia associated with Hypoplastic Left Heart in a Newborn.
Balkan journal of medical genetics : BJMGPrenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother.
The Pan African medical journalCaudal Regression Syndrome with Pressure Ulcers of the Foot: A Case Report.
Journal of clinical and diagnostic research : JCDRAtypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.
The journal of spinal cord medicineSirenomelia associated with discoid adrenal and lumbar meningocoele: An autopsy report.
Pathology, research and practiceCaudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly.
Polish journal of radiologyDiagnostic yield of lumbosacral magnetic resonance imaging requested by paediatric urology consultations.
Actas urologicas espanolasRight-sided InterStim Placement in a Patient With Left Sacral Hypoplasia.
UrologyGrowth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome.
International journal of molecular sciencesPrenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene.
Case reports in obstetrics and gynecologySacral agenesis: a pilot whole exome sequencing and copy number study.
BMC medical geneticsSevere caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up.
BJR case reportsMagnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients.
Journal of clinical imaging scienceThink of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis.
Fetal diagnosis and therapyTargeting of the Plzf Gene in the Rat by Transcription Activator-Like Effector Nuclease Results in Caudal Regression Syndrome in Spontaneously Hypertensive Rats.
PloS oneCongenital malformations of the brain and spine.
Handbook of clinical neurologyPregnancy outcomes after exposure to tocilizumab: A retrospective analysis of 61 patients in Japan.
Modern rheumatologySacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIncidence and Spectrum of Renal Complications and Extrarenal Diseases and Syndromes in 380 Children and Young Adults With Horseshoe Kidney.
AJR. American journal of roentgenologyCaudal regression syndrome with diplomyelia (type 2 split cord malformation), tethered cord, syringomyelia, and horse-shoe kidney.
The spine journal : official journal of the North American Spine Society[Caudal regression sequence: clinical-radiological case].
Revista chilena de pediatriaRare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management.
BioMed research internationalSacral Agenesis with Neurogenic Bladder Dysfunction-A Case Report and Review of the Literature.
Journal of clinical and diagnostic research : JCDRCaudal regression syndrome with diastematomyelia, multiple vertebral anomalies, and rotoscoliosis in an adult.
The spine journal : official journal of the North American Spine SocietyA case of avoidable heterotopic pregnancy after single embryo transfer.
Reproductive biomedicine onlineSirenomelia: 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 medicineMBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral development†.
Human molecular geneticsIn utero diagnosis of caudal regression syndrome.
Radiology case reportsSirenomelia and severe caudal regression syndrome.
Saudi medical journalAssociações
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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.
- Positive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.
- Sacral Agenesis.
- Effective use of frequent enemas and abdominal care in a very-low-birth-weight infant with caudal regression syndrome.Pediatrics international : official journal of the Japan Pediatric Society· 2025· PMID 41044996mais citado
- Purple Urine Bag Syndrome in a Young Adult With Neurogenic Bladder Secondary to Partial Caudal Regression Syndrome: A Case Report.
- From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.
- Therapeutic Termination of Pregnancy Under the Umbrella of Environmental, Socio-Economic Factors and High-Risk Pregnancy.
- Sirenomelia and the Spectrum of Caudal Anomalies: Clinical Reflections From a Preterm Termination.
- Sirenomelia in Twin IVF Pregnancy: A Rare Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3027(Orphanet)
- MONDO:0017607(MONDO)
- GARD:6007(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1129947(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.
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